Canonical Allele Identifier: CA480062978

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51915241-C-T
• MyVariant Identifiers: chr12:g.52309025C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915241C>T , CM000674.2:g.51915241C>T	GRCh38
NC_000012.11:g.52309025C>T , CM000674.1:g.52309025C>T	GRCh37
NC_000012.10:g.50595292C>T	NCBI36
NG_009549.1:g.12824C>T , LRG_543:g.12824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.519C>T	ENSP00000446724.2:p.Asp173=
ENST00000551576.6:c.789C>T	ENSP00000455848.2:p.Asp263=
ENST00000552678.2:c.789C>T	ENSP00000457394.2:p.Asp263=
ENST00000388922.9:c.789C>T MANE Select	ENSP00000373574.4:p.Asp263=
ENST00000388922.8:c.789C>T	ENSP00000373574.4:p.Asp263=
ENST00000419526.6:c.267C>T	ENSP00000392492.2:p.Asp89=
ENST00000550683.5:c.831C>T	ENSP00000447884.1:p.Asp277=
NM_000020.2:c.789C>T , LRG_543t1:c.789C>T	NP_000011.2:p.Asp263=
NM_001077401.1:c.789C>T	NP_001070869.1:p.Asp263=
XM_005269235.2:c.789C>T	XP_005269292.1:p.Asp263=
XM_011539008.1:c.519C>T	XP_011537310.1:p.Asp173=
XM_024449279.1:c.-1C>T	XP_024305047.1:n.-1C>T
NM_000020.3:c.789C>T MANE Select	NP_000011.2:p.Asp263=
NM_001077401.2:c.789C>T	NP_001070869.1:p.Asp263=