Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.87518691C>T , CM000668.2:g.87518691C>T	GRCh38
NC_000006.11:g.88228409C>T , CM000668.1:g.88228409C>T	GRCh37
NC_000006.10:g.88285128C>T	NCBI36
NG_008601.1:g.76327G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000451155.2:c.829G>A	ENSP00000389656.2:p.Val277Ile
ENST00000493269.2:n.1374G>A
ENST00000497828.2:n.3549G>A
ENST00000684790.1:c.*360G>A	ENSP00000509974.1:n.*360G>A
ENST00000685069.1:c.415G>A	ENSP00000509876.1:p.Val139Ile
ENST00000685219.1:n.1390G>A
ENST00000685336.1:c.*777G>A	ENSP00000508757.1:n.*777G>A
ENST00000685376.1:c.*476G>A	ENSP00000508661.1:n.*476G>A
ENST00000685408.1:c.829G>A	ENSP00000509026.1:p.Val277Ile
ENST00000685701.1:c.415G>A	ENSP00000509573.1:p.Val139Ile
ENST00000685881.1:c.829G>A	ENSP00000510572.1:p.Val277Ile
ENST00000686142.1:c.829G>A	ENSP00000510793.1:p.Val277Ile
ENST00000686154.1:c.415G>A	ENSP00000508436.1:p.Val139Ile
ENST00000686196.1:n.1599G>A
ENST00000686284.1:c.415G>A	ENSP00000510099.1:p.Val139Ile
ENST00000686371.1:n.856G>A
ENST00000686407.1:c.415G>A	ENSP00000509880.1:p.Val139Ile
ENST00000686857.1:c.*270G>A	ENSP00000509934.1:n.*270G>A
ENST00000686988.1:c.1452G>A	ENSP00000508830.1:n.1452G>A
ENST00000687090.1:n.1719G>A
ENST00000687437.1:c.1354G>A	ENSP00000508968.1:p.Val452Ile
ENST00000687579.1:c.*400G>A	ENSP00000510257.1:n.*400G>A
ENST00000687586.1:c.277G>A	ENSP00000508441.1:p.Val93Ile
ENST00000687729.1:c.781-9G>A	ENSP00000508582.1:n.781-9G>A
ENST00000687909.1:c.*764G>A	ENSP00000508659.1:n.*764G>A
ENST00000688106.1:c.415G>A	ENSP00000509529.1:p.Val139Ile
ENST00000688391.1:n.1862G>A
ENST00000688532.1:c.277G>A	ENSP00000510320.1:p.Val93Ile
ENST00000688808.1:n.1860G>A
ENST00000688842.1:n.3828G>A
ENST00000689174.1:c.829G>A	ENSP00000510542.1:p.Val277Ile
ENST00000689206.1:c.415G>A	ENSP00000510495.1:p.Val139Ile
ENST00000689561.1:n.2370G>A
ENST00000689594.1:n.2346G>A
ENST00000689952.1:c.*692G>A	ENSP00000508977.1:n.*692G>A
ENST00000690205.1:c.*1232G>A	ENSP00000508972.1:n.*1232G>A
ENST00000690622.1:c.415G>A	ENSP00000508528.1:p.Val139Ile
ENST00000690705.1:c.*270G>A	ENSP00000509923.1:n.*270G>A
ENST00000690884.1:c.*270G>A	ENSP00000509931.1:n.*270G>A
ENST00000691205.1:n.2320G>A
ENST00000691238.1:c.*476G>A	ENSP00000510094.1:n.*476G>A
ENST00000691533.1:n.1390G>A
ENST00000691634.1:n.1235G>A
ENST00000691725.1:c.1354G>A	ENSP00000509453.1:p.Val452Ile
ENST00000691815.1:c.*270G>A	ENSP00000509579.1:n.*270G>A
ENST00000692270.1:c.*270G>A	ENSP00000510055.1:n.*270G>A
ENST00000692394.1:c.133G>A	ENSP00000509567.1:p.Val45Ile
ENST00000692684.1:c.829G>A	ENSP00000509712.1:p.Val277Ile
ENST00000692843.1:c.*341G>A	ENSP00000509592.1:n.*341G>A
ENST00000693327.1:c.829G>A	ENSP00000509195.1:p.Val277Ile
ENST00000693431.1:c.829G>A	ENSP00000509147.1:p.Val277Ile
ENST00000693605.1:c.*270G>A	ENSP00000510050.1:n.*270G>A
ENST00000369536.10:c.1354G>A MANE Select	ENSP00000358549.5:p.Val452Ile
ENST00000369536.9:c.1354G>A	ENSP00000358549.5:p.Val452Ile
ENST00000497828.1:n.457G>A
NM_020320.3:c.1354G>A	NP_064716.2:p.Val452Ile
XM_005248735.3:c.829G>A	XP_005248792.2:p.Val277Ile
XM_005248736.3:c.829G>A	XP_005248793.2:p.Val277Ile
XM_005248737.3:c.829G>A	XP_005248794.2:p.Val277Ile
XM_011535947.1:c.1354G>A	XP_011534249.1:p.Val452Ile
XM_011535948.1:c.1354G>A	XP_011534250.1:p.Val452Ile
XM_011535949.1:c.1354G>A	XP_011534251.1:p.Val452Ile
XM_011535950.1:c.829G>A	XP_011534252.1:p.Val277Ile
XM_011535951.1:c.829G>A	XP_011534253.1:p.Val277Ile
XM_011535952.1:c.415G>A	XP_011534254.1:p.Val139Ile
XM_011535953.1:c.415G>A	XP_011534255.1:p.Val139Ile
XM_011535954.1:c.415G>A	XP_011534256.1:p.Val139Ile
XM_011535955.1:c.415G>A	XP_011534257.1:p.Val139Ile
XR_241848.1:n.1410G>A
NM_001318785.1:c.829G>A	NP_001305714.1:p.Val277Ile
NM_001350505.1:c.1354G>A	NP_001337434.1:p.Val452Ile
NM_001350506.1:c.829G>A	NP_001337435.1:p.Val277Ile
NM_001350507.1:c.829G>A	NP_001337436.1:p.Val277Ile
NM_001350508.1:c.829G>A	NP_001337437.1:p.Val277Ile
NM_001350509.1:c.829G>A	NP_001337438.1:p.Val277Ile
NM_001350510.1:c.829G>A	NP_001337439.1:p.Val277Ile
NM_001350511.1:c.829G>A	NP_001337440.1:p.Val277Ile
NM_020320.4:c.1354G>A	NP_064716.2:p.Val452Ile
NR_134857.1:n.1425G>A
NR_146738.1:n.1697G>A
NR_146739.1:n.1506G>A
NR_146740.1:n.1774G>A
NR_146741.1:n.1436G>A
NR_146742.1:n.1808G>A
NR_146743.1:n.1646G>A
NR_146744.1:n.1774G>A
NR_146745.1:n.1433G>A
NR_146746.1:n.1868G>A
NR_146747.1:n.1212G>A
NR_146748.1:n.1672G>A
NR_146749.1:n.1646G>A
NR_146750.1:n.1770G>A
NR_146751.1:n.1650G>A
NR_146752.1:n.1714G>A
NR_146753.1:n.1566G>A
NR_146754.1:n.1510G>A
NR_146755.1:n.1774G>A
NR_146756.1:n.1429G>A
NR_146757.1:n.1700G>A
NR_146758.1:n.1429G>A
NR_146759.1:n.1429G>A
XM_011535949.3:c.1354G>A	XP_011534251.1:p.Val452Ile
XM_017011073.1:c.829G>A	XP_016866562.1:p.Val277Ile
XM_017011074.2:c.829G>A	XP_016866563.1:p.Val277Ile
XM_017011075.2:c.829G>A	XP_016866564.1:p.Val277Ile
XM_017011076.2:c.829G>A	XP_016866565.1:p.Val277Ile
XM_017011077.2:c.829G>A	XP_016866566.1:p.Val277Ile
XM_017011078.2:c.829G>A	XP_016866567.1:p.Val277Ile
XM_024446494.1:c.829G>A	XP_024302262.1:p.Val277Ile
NM_020320.5:c.1354G>A MANE Select	NP_064716.2:p.Val452Ile
NM_001318785.2:c.829G>A	NP_001305714.1:p.Val277Ile
NM_001350505.2:c.1354G>A	NP_001337434.1:p.Val452Ile
NM_001350506.2:c.829G>A	NP_001337435.1:p.Val277Ile
NM_001350507.2:c.829G>A	NP_001337436.1:p.Val277Ile
NM_001350508.2:c.829G>A	NP_001337437.1:p.Val277Ile
NM_001350509.2:c.829G>A	NP_001337438.1:p.Val277Ile
NM_001350510.2:c.829G>A	NP_001337439.1:p.Val277Ile
NM_001350511.2:c.829G>A	NP_001337440.1:p.Val277Ile
NR_134857.2:n.1380G>A
NR_146738.2:n.1652G>A
NR_146739.2:n.1461G>A
NR_146740.2:n.1729G>A
NR_146741.2:n.1391G>A
NR_146742.2:n.1763G>A
NR_146743.2:n.1601G>A
NR_146744.2:n.1729G>A
NR_146745.2:n.1388G>A
NR_146746.2:n.1823G>A
NR_146747.2:n.1167G>A
NR_146748.2:n.1627G>A
NR_146749.2:n.1601G>A
NR_146750.2:n.1725G>A
NR_146751.2:n.1605G>A
NR_146752.2:n.1669G>A
NR_146753.2:n.1521G>A
NR_146754.2:n.1465G>A
NR_146755.2:n.1729G>A
NR_146756.2:n.1384G>A
NR_146757.2:n.1655G>A
NR_146758.2:n.1384G>A
NR_146759.2:n.1384G>A

Linked Data

Genomic Alleles

Transcript Alleles