Canonical Allele Identifier: CA479811668

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52309995T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916211T>C , CM000674.2:g.51916211T>C	GRCh38
NC_000012.11:g.52309995T>C , CM000674.1:g.52309995T>C	GRCh37
NC_000012.10:g.50596262T>C	NCBI36
NG_009549.1:g.13794T>C , LRG_543:g.13794T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.954T>C	ENSP00000446724.2:p.Ile318=
ENST00000551576.6:c.1224T>C	ENSP00000455848.2:p.Ile408=
ENST00000552678.2:c.1224T>C	ENSP00000457394.2:p.Ile408=
ENST00000388922.9:c.1224T>C MANE Select	ENSP00000373574.4:p.Ile408=
ENST00000388922.8:c.1224T>C	ENSP00000373574.4:p.Ile408=
ENST00000419526.6:c.702T>C	ENSP00000392492.2:p.Ile234=
ENST00000547632.1:n.499T>C
ENST00000550683.5:c.1266T>C	ENSP00000447884.1:p.Ile422=
ENST00000552678.1:c.229T>C
NM_000020.2:c.1224T>C , LRG_543t1:c.1224T>C	NP_000011.2:p.Ile408=
NM_001077401.1:c.1224T>C	NP_001070869.1:p.Ile408=
XM_005269235.2:c.1224T>C	XP_005269292.1:p.Ile408=
XM_011539008.1:c.954T>C	XP_011537310.1:p.Ile318=
XM_024449279.1:c.435T>C	XP_024305047.1:p.Ile145=
NM_000020.3:c.1224T>C MANE Select	NP_000011.2:p.Ile408=
NM_001077401.2:c.1224T>C	NP_001070869.1:p.Ile408=