Canonical Allele Identifier: CA2618858196

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51913426-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913426T>A , CM000674.2:g.51913426T>A	GRCh38
NC_000012.11:g.52307210T>A , CM000674.1:g.52307210T>A	GRCh37
NC_000012.10:g.50593477T>A	NCBI36
NG_009549.1:g.11009T>A , LRG_543:g.11009T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+76T>A	ENSP00000446724.2:n.355+76T>A
ENST00000551576.6:c.313+76T>A	ENSP00000455848.2:n.313+76T>A
ENST00000552678.2:c.313+76T>A	ENSP00000457394.2:n.313+76T>A
ENST00000388922.9:c.313+76T>A MANE Select	ENSP00000373574.4:n.313+76T>A
ENST00000388922.8:c.313+76T>A	ENSP00000373574.4:n.313+76T>A
ENST00000419526.6:c.103+891T>A	ENSP00000392492.2:n.103+891T>A
ENST00000547400.5:c.355+76T>A	ENSP00000446724.1:n.355+76T>A
ENST00000550683.5:c.355+76T>A	ENSP00000447884.1:n.355+76T>A
NM_000020.2:c.313+76T>A , LRG_543t1:c.313+76T>A	NP_000011.2:n.313+76T>A
NM_001077401.1:c.313+76T>A	NP_001070869.1:n.313+76T>A
XM_005269235.2:c.313+76T>A	XP_005269292.1:n.313+76T>A
XM_011539008.1:c.355+76T>A	XP_011537310.1:n.355+76T>A
XM_024449279.1:c.-377+76T>A	XP_024305047.1:n.-377+76T>A
NM_000020.3:c.313+76T>A MANE Select	NP_000011.2:n.313+76T>A
NM_001077401.2:c.313+76T>A	NP_001070869.1:n.313+76T>A