Canonical Allele Identifier: CA384899925

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51914070-G-T
• MyVariant Identifiers: chr12:g.52307854G>T (hg19) ; chr12:g.51914070G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914070G>T , CM000674.2:g.51914070G>T	GRCh38
NC_000012.11:g.52307854G>T , CM000674.1:g.52307854G>T	GRCh37
NC_000012.10:g.50594121G>T	NCBI36
NG_009549.1:g.11653G>T , LRG_543:g.11653G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-369G>T	ENSP00000446724.2:n.356-369G>T
ENST00000551576.6:c.622G>T	ENSP00000455848.2:p.Val208Leu
ENST00000552678.2:c.622G>T	ENSP00000457394.2:p.Val208Leu
ENST00000388922.9:c.622G>T MANE Select	ENSP00000373574.4:p.Val208Leu
ENST00000388922.8:c.622G>T	ENSP00000373574.4:p.Val208Leu
ENST00000419526.6:c.104-369G>T	ENSP00000392492.2:n.104-369G>T
ENST00000547400.5:c.356-369G>T	ENSP00000446724.1:n.356-369G>T
ENST00000550683.5:c.664G>T	ENSP00000447884.1:p.Val222Leu
NM_000020.2:c.622G>T , LRG_543t1:c.622G>T	NP_000011.2:p.Val208Leu
NM_001077401.1:c.622G>T	NP_001070869.1:p.Val208Leu
XM_005269235.2:c.622G>T	XP_005269292.1:p.Val208Leu
XM_011539008.1:c.356-369G>T	XP_011537310.1:n.356-369G>T
XM_024449279.1:c.-165+300G>T	XP_024305047.1:n.-165+300G>T
NM_000020.3:c.622G>T MANE Select	NP_000011.2:p.Val208Leu
NM_001077401.2:c.622G>T	NP_001070869.1:p.Val208Leu