Canonical Allele Identifier: CA6573032

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915445C>T , CM000674.2:g.51915445C>T	GRCh38
NC_000012.11:g.52309229C>T , CM000674.1:g.52309229C>T	GRCh37
NC_000012.10:g.50595496C>T	NCBI36
NG_009549.1:g.13028C>T , LRG_543:g.13028C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000020.3:c.993C>T MANE Select	NP_000011.2:p.Phe331=
ENST00000388922.9:c.993C>T MANE Select	ENSP00000373574.4:p.Phe331=
NM_000020.2:c.993C>T , LRG_543t1:c.993C>T	NP_000011.2:p.Phe331=
NM_001077401.1:c.993C>T	NP_001070869.1:p.Phe331=
NM_001077401.2:c.993C>T	NP_001070869.1:p.Phe331=
ENST00000388922.8:c.993C>T	ENSP00000373574.4:p.Phe331=
ENST00000419526.6:c.471C>T	ENSP00000392492.2:p.Phe157=
ENST00000547400.6:c.723C>T	ENSP00000446724.2:p.Phe241=
ENST00000550683.5:c.1035C>T	ENSP00000447884.1:p.Phe345=
ENST00000551576.6:c.993C>T	ENSP00000455848.2:p.Phe331=
ENST00000552678.2:c.993C>T	ENSP00000457394.2:p.Phe331=
XM_005269235.2:c.993C>T	XP_005269292.1:p.Phe331=
XM_011539008.1:c.723C>T	XP_011537310.1:p.Phe241=
XM_024449279.1:c.204C>T	XP_024305047.1:p.Phe68=