Canonical Allele Identifier: CA236361664

Gene: ACVRL1

Linked Data

• dbSNP Id: rs900724733
• gnomAD v2: 12-52306774-G-C
• gnomAD v3: 12-51912990-G-C
• gnomAD v4: 12-51912990-G-C
• MyVariant Identifiers: chr12:g.52306774G>C (hg19) ; chr12:g.51912990G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912990G>C , CM000674.2:g.51912990G>C	GRCh38
NC_000012.11:g.52306774G>C , CM000674.1:g.52306774G>C	GRCh37
NC_000012.10:g.50593041G>C	NCBI36
NG_009549.1:g.10573G>C , LRG_543:g.10573G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.104-109G>C	ENSP00000446724.2:n.104-109G>C
ENST00000551576.6:c.62-109G>C	ENSP00000455848.2:n.62-109G>C
ENST00000552678.2:c.62-109G>C	ENSP00000457394.2:n.62-109G>C
ENST00000388922.9:c.62-109G>C MANE Select	ENSP00000373574.4:n.62-109G>C
ENST00000388922.8:c.62-109G>C	ENSP00000373574.4:n.62-109G>C
ENST00000419526.6:c.103+455G>C	ENSP00000392492.2:n.103+455G>C
ENST00000547400.5:c.104-109G>C	ENSP00000446724.1:n.104-109G>C
ENST00000550683.5:c.104-109G>C	ENSP00000447884.1:n.104-109G>C
ENST00000551576.5:c.62-109G>C	ENSP00000455848.1:n.62-109G>C
NM_000020.2:c.62-109G>C , LRG_543t1:c.62-109G>C	NP_000011.2:n.62-109G>C
NM_001077401.1:c.62-109G>C	NP_001070869.1:n.62-109G>C
XM_005269235.2:c.62-109G>C	XP_005269292.1:n.62-109G>C
XM_011539008.1:c.104-109G>C	XP_011537310.1:n.104-109G>C
NM_000020.3:c.62-109G>C MANE Select	NP_000011.2:n.62-109G>C
NM_001077401.2:c.62-109G>C	NP_001070869.1:n.62-109G>C