Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.109668271A>G , CM000685.2:g.109668271A>G	GRCh38
NC_000023.10:g.108911500A>G , CM000685.1:g.108911500A>G	GRCh37
NC_000023.9:g.108798156A>G	NCBI36
NG_008053.1:g.70122T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340800.7:c.1268T>C	ENSP00000339787.2:p.Leu423Ser
ENST00000682031.1:c.1126-14T>C	ENSP00000506881.1:n.1126-14T>C
ENST00000683559.1:n.2856T>C
ENST00000684030.1:n.1661T>C
ENST00000684414.1:n.135-24085T>C
ENST00000469796.7:c.1268T>C	ENSP00000419171.2:p.Leu423Ser
ENST00000502391.6:c.1268T>C	ENSP00000425408.2:p.Leu423Ser
ENST00000671846.1:c.1268T>C	ENSP00000500897.1:p.Leu423Ser
ENST00000672282.1:c.1145T>C	ENSP00000500678.1:p.Leu382Ser
ENST00000672401.1:c.1145T>C MANE Select	ENSP00000500273.1:p.Leu382Ser
ENST00000673016.1:c.1145T>C	ENSP00000499969.1:p.Leu382Ser
ENST00000340800.6:c.1268T>C	ENSP00000339787.2:p.Leu423Ser
ENST00000348502.10:c.1145T>C	ENSP00000262835.7:p.Leu382Ser
ENST00000469796.6:c.1268T>C	ENSP00000419171.2:p.Leu423Ser
ENST00000514500.1:c.79T>C
NM_004458.2:c.1145T>C	NP_004449.1:p.Leu382Ser
NM_022977.2:c.1268T>C	NP_075266.1:p.Leu423Ser
XM_005262108.1:c.1268T>C	XP_005262165.1:p.Leu423Ser
XM_005262109.1:c.1268T>C	XP_005262166.1:p.Leu423Ser
XM_005262110.1:c.1145T>C	XP_005262167.1:p.Leu382Ser
XM_006724635.1:c.1145T>C	XP_006724698.1:p.Leu382Ser
XM_011530888.1:c.1268T>C	XP_011529190.1:p.Leu423Ser
XM_011530889.1:c.1268T>C	XP_011529191.1:p.Leu423Ser
NM_001318509.1:c.1268T>C	NP_001305438.1:p.Leu423Ser
NM_001318510.1:c.1145T>C	NP_001305439.1:p.Leu382Ser
XM_005262109.2:c.1268T>C	XP_005262166.1:p.Leu423Ser
XM_006724635.2:c.1145T>C	XP_006724698.1:p.Leu382Ser
XM_011530888.2:c.1268T>C	XP_011529190.1:p.Leu423Ser
XM_011530889.2:c.1268T>C	XP_011529191.1:p.Leu423Ser
XM_024452351.1:c.1286T>C	XP_024308119.1:p.Leu429Ser
NM_001318509.2:c.1268T>C	NP_001305438.1:p.Leu423Ser
NM_001318510.2:c.1145T>C MANE Select	NP_001305439.1:p.Leu382Ser
NM_004458.3:c.1145T>C	NP_004449.1:p.Leu382Ser
NM_022977.3:c.1268T>C	NP_075266.1:p.Leu423Ser