Canonical Allele Identifier: CA384901773

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51915488-A-C
• MyVariant Identifiers: chr12:g.52309272A>C (hg19) ; chr12:g.51915488A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915488A>C , CM000674.2:g.51915488A>C	GRCh38
NC_000012.11:g.52309272A>C , CM000674.1:g.52309272A>C	GRCh37
NC_000012.10:g.50595539A>C	NCBI36
NG_009549.1:g.13071A>C , LRG_543:g.13071A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.766A>C	ENSP00000446724.2:p.Ile256Leu
ENST00000551576.6:c.1036A>C	ENSP00000455848.2:p.Ile346Leu
ENST00000552678.2:c.1036A>C	ENSP00000457394.2:p.Ile346Leu
ENST00000388922.9:c.1036A>C MANE Select	ENSP00000373574.4:p.Ile346Leu
ENST00000388922.8:c.1036A>C	ENSP00000373574.4:p.Ile346Leu
ENST00000419526.6:c.514A>C	ENSP00000392492.2:p.Ile172Leu
ENST00000550683.5:c.1078A>C	ENSP00000447884.1:p.Ile360Leu
ENST00000552678.1:c.41A>C
NM_000020.2:c.1036A>C , LRG_543t1:c.1036A>C	NP_000011.2:p.Ile346Leu
NM_001077401.1:c.1036A>C	NP_001070869.1:p.Ile346Leu
XM_005269235.2:c.1036A>C	XP_005269292.1:p.Ile346Leu
XM_011539008.1:c.766A>C	XP_011537310.1:p.Ile256Leu
XM_024449279.1:c.247A>C	XP_024305047.1:p.Ile83Leu
NM_000020.3:c.1036A>C MANE Select	NP_000011.2:p.Ile346Leu
NM_001077401.2:c.1036A>C	NP_001070869.1:p.Ile346Leu