Canonical Allele Identifier: CA6572943

Gene: ACVRL1

Linked Data

• dbSNP Id: rs749838611
• ExAC: 12:52307877 G / C
• gnomAD v2: 12-52307877-G-C
• gnomAD v4: 12-51914093-G-C
• MyVariant Identifiers: chr12:g.52307877G>C (hg19) ; chr12:g.51914093G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914093G>C , CM000674.2:g.51914093G>C	GRCh38
NC_000012.11:g.52307877G>C , CM000674.1:g.52307877G>C	GRCh37
NC_000012.10:g.50594144G>C	NCBI36
NG_009549.1:g.11676G>C , LRG_543:g.11676G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.356-346G>C	ENSP00000446724.2:n.356-346G>C
ENST00000551576.6:c.625+20G>C	ENSP00000455848.2:n.625+20G>C
ENST00000552678.2:c.625+20G>C	ENSP00000457394.2:n.625+20G>C
ENST00000388922.9:c.625+20G>C MANE Select	ENSP00000373574.4:n.625+20G>C
ENST00000388922.8:c.625+20G>C	ENSP00000373574.4:n.625+20G>C
ENST00000419526.6:c.104-346G>C	ENSP00000392492.2:n.104-346G>C
ENST00000547400.5:c.356-346G>C	ENSP00000446724.1:n.356-346G>C
ENST00000550683.5:c.667+20G>C	ENSP00000447884.1:n.667+20G>C
NM_000020.2:c.625+20G>C , LRG_543t1:c.625+20G>C	NP_000011.2:n.625+20G>C
NM_001077401.1:c.625+20G>C	NP_001070869.1:n.625+20G>C
XM_005269235.2:c.625+20G>C	XP_005269292.1:n.625+20G>C
XM_011539008.1:c.356-346G>C	XP_011537310.1:n.356-346G>C
XM_024449279.1:c.-165+323G>C	XP_024305047.1:n.-165+323G>C
NM_000020.3:c.625+20G>C MANE Select	NP_000011.2:n.625+20G>C
NM_001077401.2:c.625+20G>C	NP_001070869.1:n.625+20G>C