Canonical Allele Identifier: CA605238815

Gene: ACVRL1

Linked Data

• dbSNP Id: rs372753267
• gnomAD v2: 12-52309003-A-C
• gnomAD v3: 12-51915219-A-C
• gnomAD v4: 12-51915219-A-C
• MyVariant Identifiers: chr12:g.52309003A>C (hg19) ; chr12:g.51915219A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915219A>C , CM000674.2:g.51915219A>C	GRCh38
NC_000012.11:g.52309003A>C , CM000674.1:g.52309003A>C	GRCh37
NC_000012.10:g.50595270A>C	NCBI36
NG_009549.1:g.12802A>C , LRG_543:g.12802A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.503-6A>C	ENSP00000446724.2:n.503-6A>C
ENST00000551576.6:c.773-6A>C	ENSP00000455848.2:n.773-6A>C
ENST00000552678.2:c.773-6A>C	ENSP00000457394.2:n.773-6A>C
ENST00000388922.9:c.773-6A>C MANE Select	ENSP00000373574.4:n.773-6A>C
ENST00000388922.8:c.773-6A>C	ENSP00000373574.4:n.773-6A>C
ENST00000419526.6:c.251-6A>C	ENSP00000392492.2:n.251-6A>C
ENST00000550683.5:c.815-6A>C	ENSP00000447884.1:n.815-6A>C
NM_000020.2:c.773-6A>C , LRG_543t1:c.773-6A>C	NP_000011.2:n.773-6A>C
NM_001077401.1:c.773-6A>C	NP_001070869.1:n.773-6A>C
XM_005269235.2:c.773-6A>C	XP_005269292.1:n.773-6A>C
XM_011539008.1:c.503-6A>C	XP_011537310.1:n.503-6A>C
XM_024449279.1:c.-17-6A>C	XP_024305047.1:n.-17-6A>C
NM_000020.3:c.773-6A>C MANE Select	NP_000011.2:n.773-6A>C
NM_001077401.2:c.773-6A>C	NP_001070869.1:n.773-6A>C