Canonical Allele Identifier: CA384905253

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52314547T>C (hg19) ; chr12:g.51920763T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920763T>C , CM000674.2:g.51920763T>C	GRCh38
NC_000012.11:g.52314547T>C , CM000674.1:g.52314547T>C	GRCh37
NC_000012.10:g.50600814T>C	NCBI36
NG_009549.1:g.18346T>C , LRG_543:g.18346T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000388922.9:c.1382T>C MANE Select	ENSP00000373574.4:p.Leu461Pro
ENST00000388922.8:c.1382T>C	ENSP00000373574.4:p.Leu461Pro
ENST00000419526.6:c.860T>C	ENSP00000392492.2:p.Leu287Pro
ENST00000550683.5:c.1424T>C	ENSP00000447884.1:p.Leu475Pro
NM_000020.2:c.1382T>C , LRG_543t1:c.1382T>C	NP_000011.2:p.Leu461Pro
NM_001077401.1:c.1382T>C	NP_001070869.1:p.Leu461Pro
XM_005269235.2:c.1382T>C	XP_005269292.1:p.Leu461Pro
XM_011539008.1:c.1112T>C	XP_011537310.1:p.Leu371Pro
XM_024449279.1:c.593T>C	XP_024305047.1:p.Leu198Pro
NM_000020.3:c.1382T>C MANE Select	NP_000011.2:p.Leu461Pro
NM_001077401.2:c.1382T>C	NP_001070869.1:p.Leu461Pro