Canonical Allele Identifier: CA384900698

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51915333-T-C
• MyVariant Identifiers: chr12:g.52309117T>C (hg19) ; chr12:g.51915333T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915333T>C , CM000674.2:g.51915333T>C	GRCh38
NC_000012.11:g.52309117T>C , CM000674.1:g.52309117T>C	GRCh37
NC_000012.10:g.50595384T>C	NCBI36
NG_009549.1:g.12916T>C , LRG_543:g.12916T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.611T>C	ENSP00000446724.2:p.Leu204Pro
ENST00000551576.6:c.881T>C	ENSP00000455848.2:p.Leu294Pro
ENST00000552678.2:c.881T>C	ENSP00000457394.2:p.Leu294Pro
ENST00000388922.9:c.881T>C MANE Select	ENSP00000373574.4:p.Leu294Pro
ENST00000388922.8:c.881T>C	ENSP00000373574.4:p.Leu294Pro
ENST00000419526.6:c.359T>C	ENSP00000392492.2:p.Leu120Pro
ENST00000550683.5:c.923T>C	ENSP00000447884.1:p.Leu308Pro
NM_000020.2:c.881T>C , LRG_543t1:c.881T>C	NP_000011.2:p.Leu294Pro
NM_001077401.1:c.881T>C	NP_001070869.1:p.Leu294Pro
XM_005269235.2:c.881T>C	XP_005269292.1:p.Leu294Pro
XM_011539008.1:c.611T>C	XP_011537310.1:p.Leu204Pro
XM_024449279.1:c.92T>C	XP_024305047.1:p.Leu31Pro
NM_000020.3:c.881T>C MANE Select	NP_000011.2:p.Leu294Pro
NM_001077401.2:c.881T>C	NP_001070869.1:p.Leu294Pro