Canonical Allele Identifier: CA384905655

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1330003125
• gnomAD v4: 12-51920811-C-T
• MyVariant Identifiers: chr12:g.52314595C>T (hg19) ; chr12:g.51920811C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920811C>T , CM000674.2:g.51920811C>T	GRCh38
NC_000012.11:g.52314595C>T , CM000674.1:g.52314595C>T	GRCh37
NC_000012.10:g.50600862C>T	NCBI36
NG_009549.1:g.18394C>T , LRG_543:g.18394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1160C>T	ENSP00000446724.2:p.Ser387Phe
ENST00000551576.6:c.1430C>T	ENSP00000455848.2:p.Ser477Phe
ENST00000388922.9:c.1430C>T MANE Select	ENSP00000373574.4:p.Ser477Phe
ENST00000388922.8:c.1430C>T	ENSP00000373574.4:p.Ser477Phe
ENST00000419526.6:c.908C>T	ENSP00000392492.2:p.Ser303Phe
ENST00000550683.5:c.1472C>T	ENSP00000447884.1:p.Ser491Phe
NM_000020.2:c.1430C>T , LRG_543t1:c.1430C>T	NP_000011.2:p.Ser477Phe
NM_001077401.1:c.1430C>T	NP_001070869.1:p.Ser477Phe
XM_005269235.2:c.1430C>T	XP_005269292.1:p.Ser477Phe
XM_011539008.1:c.1160C>T	XP_011537310.1:p.Ser387Phe
XM_024449279.1:c.641C>T	XP_024305047.1:p.Ser214Phe
NM_000020.3:c.1430C>T MANE Select	NP_000011.2:p.Ser477Phe
NM_001077401.2:c.1430C>T	NP_001070869.1:p.Ser477Phe