Canonical Allele Identifier: CA2618856066

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51914218-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914218A>T , CM000674.2:g.51914218A>T	GRCh38
NC_000012.11:g.52308002A>T , CM000674.1:g.52308002A>T	GRCh37
NC_000012.10:g.50594269A>T	NCBI36
NG_009549.1:g.11801A>T , LRG_543:g.11801A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-221A>T	ENSP00000446724.2:n.356-221A>T
ENST00000551576.6:c.625+145A>T	ENSP00000455848.2:n.625+145A>T
ENST00000552678.2:c.625+145A>T	ENSP00000457394.2:n.625+145A>T
ENST00000388922.9:c.625+145A>T MANE Select	ENSP00000373574.4:n.625+145A>T
ENST00000388922.8:c.625+145A>T	ENSP00000373574.4:n.625+145A>T
ENST00000419526.6:c.104-221A>T	ENSP00000392492.2:n.104-221A>T
ENST00000547400.5:c.356-221A>T	ENSP00000446724.1:n.356-221A>T
ENST00000550683.5:c.667+145A>T	ENSP00000447884.1:n.667+145A>T
NM_000020.2:c.625+145A>T , LRG_543t1:c.625+145A>T	NP_000011.2:n.625+145A>T
NM_001077401.1:c.625+145A>T	NP_001070869.1:n.625+145A>T
XM_005269235.2:c.625+145A>T	XP_005269292.1:n.625+145A>T
XM_011539008.1:c.356-221A>T	XP_011537310.1:n.356-221A>T
XM_024449279.1:c.-164-221A>T	XP_024305047.1:n.-164-221A>T
NM_000020.3:c.625+145A>T MANE Select	NP_000011.2:n.625+145A>T
NM_001077401.2:c.625+145A>T	NP_001070869.1:n.625+145A>T