Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.87518720A>G , CM000668.2:g.87518720A>G	GRCh38
NC_000006.11:g.88228438A>G , CM000668.1:g.88228438A>G	GRCh37
NC_000006.10:g.88285157A>G	NCBI36
NG_008601.1:g.76298T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000451155.2:c.800T>C	ENSP00000389656.2:p.Leu267Ser
ENST00000493269.2:n.1345T>C
ENST00000497828.2:n.3520T>C
ENST00000684790.1:c.*331T>C	ENSP00000509974.1:n.*331T>C
ENST00000685069.1:c.386T>C	ENSP00000509876.1:p.Leu129Ser
ENST00000685219.1:n.1361T>C
ENST00000685336.1:c.*748T>C	ENSP00000508757.1:n.*748T>C
ENST00000685376.1:c.*447T>C	ENSP00000508661.1:n.*447T>C
ENST00000685408.1:c.800T>C	ENSP00000509026.1:p.Leu267Ser
ENST00000685701.1:c.386T>C	ENSP00000509573.1:p.Leu129Ser
ENST00000685881.1:c.800T>C	ENSP00000510572.1:p.Leu267Ser
ENST00000686142.1:c.800T>C	ENSP00000510793.1:p.Leu267Ser
ENST00000686154.1:c.386T>C	ENSP00000508436.1:p.Leu129Ser
ENST00000686196.1:n.1570T>C
ENST00000686284.1:c.386T>C	ENSP00000510099.1:p.Leu129Ser
ENST00000686371.1:n.827T>C
ENST00000686407.1:c.386T>C	ENSP00000509880.1:p.Leu129Ser
ENST00000686857.1:c.*241T>C	ENSP00000509934.1:n.*241T>C
ENST00000686988.1:c.1423T>C	ENSP00000508830.1:n.1423T>C
ENST00000687090.1:n.1690T>C
ENST00000687437.1:c.1325T>C	ENSP00000508968.1:p.Leu442Ser
ENST00000687579.1:c.*371T>C	ENSP00000510257.1:n.*371T>C
ENST00000687586.1:c.248T>C	ENSP00000508441.1:p.Leu83Ser
ENST00000687729.1:c.781-38T>C	ENSP00000508582.1:n.781-38T>C
ENST00000687909.1:c.*735T>C	ENSP00000508659.1:n.*735T>C
ENST00000688106.1:c.386T>C	ENSP00000509529.1:p.Leu129Ser
ENST00000688391.1:n.1833T>C
ENST00000688532.1:c.248T>C	ENSP00000510320.1:p.Leu83Ser
ENST00000688808.1:n.1831T>C
ENST00000688842.1:n.3799T>C
ENST00000689174.1:c.800T>C	ENSP00000510542.1:p.Leu267Ser
ENST00000689206.1:c.386T>C	ENSP00000510495.1:p.Leu129Ser
ENST00000689561.1:n.2341T>C
ENST00000689594.1:n.2317T>C
ENST00000689952.1:c.*663T>C	ENSP00000508977.1:n.*663T>C
ENST00000690205.1:c.*1203T>C	ENSP00000508972.1:n.*1203T>C
ENST00000690622.1:c.386T>C	ENSP00000508528.1:p.Leu129Ser
ENST00000690705.1:c.*241T>C	ENSP00000509923.1:n.*241T>C
ENST00000690884.1:c.*241T>C	ENSP00000509931.1:n.*241T>C
ENST00000691205.1:n.2291T>C
ENST00000691238.1:c.*447T>C	ENSP00000510094.1:n.*447T>C
ENST00000691533.1:n.1361T>C
ENST00000691634.1:n.1206T>C
ENST00000691725.1:c.1325T>C	ENSP00000509453.1:p.Leu442Ser
ENST00000691815.1:c.*241T>C	ENSP00000509579.1:n.*241T>C
ENST00000692270.1:c.*241T>C	ENSP00000510055.1:n.*241T>C
ENST00000692394.1:c.104T>C	ENSP00000509567.1:p.Leu35Ser
ENST00000692684.1:c.800T>C	ENSP00000509712.1:p.Leu267Ser
ENST00000692843.1:c.*312T>C	ENSP00000509592.1:n.*312T>C
ENST00000693327.1:c.800T>C	ENSP00000509195.1:p.Leu267Ser
ENST00000693431.1:c.800T>C	ENSP00000509147.1:p.Leu267Ser
ENST00000693605.1:c.*241T>C	ENSP00000510050.1:n.*241T>C
ENST00000369536.10:c.1325T>C MANE Select	ENSP00000358549.5:p.Leu442Ser
ENST00000369536.9:c.1325T>C	ENSP00000358549.5:p.Leu442Ser
ENST00000497828.1:n.428T>C
NM_020320.3:c.1325T>C	NP_064716.2:p.Leu442Ser
XM_005248735.3:c.800T>C	XP_005248792.2:p.Leu267Ser
XM_005248736.3:c.800T>C	XP_005248793.2:p.Leu267Ser
XM_005248737.3:c.800T>C	XP_005248794.2:p.Leu267Ser
XM_011535947.1:c.1325T>C	XP_011534249.1:p.Leu442Ser
XM_011535948.1:c.1325T>C	XP_011534250.1:p.Leu442Ser
XM_011535949.1:c.1325T>C	XP_011534251.1:p.Leu442Ser
XM_011535950.1:c.800T>C	XP_011534252.1:p.Leu267Ser
XM_011535951.1:c.800T>C	XP_011534253.1:p.Leu267Ser
XM_011535952.1:c.386T>C	XP_011534254.1:p.Leu129Ser
XM_011535953.1:c.386T>C	XP_011534255.1:p.Leu129Ser
XM_011535954.1:c.386T>C	XP_011534256.1:p.Leu129Ser
XM_011535955.1:c.386T>C	XP_011534257.1:p.Leu129Ser
XR_241848.1:n.1381T>C
NM_001318785.1:c.800T>C	NP_001305714.1:p.Leu267Ser
NM_001350505.1:c.1325T>C	NP_001337434.1:p.Leu442Ser
NM_001350506.1:c.800T>C	NP_001337435.1:p.Leu267Ser
NM_001350507.1:c.800T>C	NP_001337436.1:p.Leu267Ser
NM_001350508.1:c.800T>C	NP_001337437.1:p.Leu267Ser
NM_001350509.1:c.800T>C	NP_001337438.1:p.Leu267Ser
NM_001350510.1:c.800T>C	NP_001337439.1:p.Leu267Ser
NM_001350511.1:c.800T>C	NP_001337440.1:p.Leu267Ser
NM_020320.4:c.1325T>C	NP_064716.2:p.Leu442Ser
NR_134857.1:n.1396T>C
NR_146738.1:n.1668T>C
NR_146739.1:n.1477T>C
NR_146740.1:n.1745T>C
NR_146741.1:n.1407T>C
NR_146742.1:n.1779T>C
NR_146743.1:n.1617T>C
NR_146744.1:n.1745T>C
NR_146745.1:n.1404T>C
NR_146746.1:n.1839T>C
NR_146747.1:n.1183T>C
NR_146748.1:n.1643T>C
NR_146749.1:n.1617T>C
NR_146750.1:n.1741T>C
NR_146751.1:n.1621T>C
NR_146752.1:n.1685T>C
NR_146753.1:n.1537T>C
NR_146754.1:n.1481T>C
NR_146755.1:n.1745T>C
NR_146756.1:n.1400T>C
NR_146757.1:n.1671T>C
NR_146758.1:n.1400T>C
NR_146759.1:n.1400T>C
XM_011535949.3:c.1325T>C	XP_011534251.1:p.Leu442Ser
XM_017011073.1:c.800T>C	XP_016866562.1:p.Leu267Ser
XM_017011074.2:c.800T>C	XP_016866563.1:p.Leu267Ser
XM_017011075.2:c.800T>C	XP_016866564.1:p.Leu267Ser
XM_017011076.2:c.800T>C	XP_016866565.1:p.Leu267Ser
XM_017011077.2:c.800T>C	XP_016866566.1:p.Leu267Ser
XM_017011078.2:c.800T>C	XP_016866567.1:p.Leu267Ser
XM_024446494.1:c.800T>C	XP_024302262.1:p.Leu267Ser
NM_020320.5:c.1325T>C MANE Select	NP_064716.2:p.Leu442Ser
NM_001318785.2:c.800T>C	NP_001305714.1:p.Leu267Ser
NM_001350505.2:c.1325T>C	NP_001337434.1:p.Leu442Ser
NM_001350506.2:c.800T>C	NP_001337435.1:p.Leu267Ser
NM_001350507.2:c.800T>C	NP_001337436.1:p.Leu267Ser
NM_001350508.2:c.800T>C	NP_001337437.1:p.Leu267Ser
NM_001350509.2:c.800T>C	NP_001337438.1:p.Leu267Ser
NM_001350510.2:c.800T>C	NP_001337439.1:p.Leu267Ser
NM_001350511.2:c.800T>C	NP_001337440.1:p.Leu267Ser
NR_134857.2:n.1351T>C
NR_146738.2:n.1623T>C
NR_146739.2:n.1432T>C
NR_146740.2:n.1700T>C
NR_146741.2:n.1362T>C
NR_146742.2:n.1734T>C
NR_146743.2:n.1572T>C
NR_146744.2:n.1700T>C
NR_146745.2:n.1359T>C
NR_146746.2:n.1794T>C
NR_146747.2:n.1138T>C
NR_146748.2:n.1598T>C
NR_146749.2:n.1572T>C
NR_146750.2:n.1696T>C
NR_146751.2:n.1576T>C
NR_146752.2:n.1640T>C
NR_146753.2:n.1492T>C
NR_146754.2:n.1436T>C
NR_146755.2:n.1700T>C
NR_146756.2:n.1355T>C
NR_146757.2:n.1626T>C
NR_146758.2:n.1355T>C
NR_146759.2:n.1355T>C

Linked Data

Genomic Alleles

Transcript Alleles