Canonical Allele Identifier: CA384902873

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52309964T>C (hg19) ; chr12:g.51916180T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916180T>C , CM000674.2:g.51916180T>C	GRCh38
NC_000012.11:g.52309964T>C , CM000674.1:g.52309964T>C	GRCh37
NC_000012.10:g.50596231T>C	NCBI36
NG_009549.1:g.13763T>C , LRG_543:g.13763T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.923T>C	ENSP00000446724.2:p.Ile308Thr
ENST00000551576.6:c.1193T>C	ENSP00000455848.2:p.Ile398Thr
ENST00000552678.2:c.1193T>C	ENSP00000457394.2:p.Ile398Thr
ENST00000388922.9:c.1193T>C MANE Select	ENSP00000373574.4:p.Ile398Thr
ENST00000388922.8:c.1193T>C	ENSP00000373574.4:p.Ile398Thr
ENST00000419526.6:c.671T>C	ENSP00000392492.2:p.Ile224Thr
ENST00000547632.1:n.468T>C
ENST00000550683.5:c.1235T>C	ENSP00000447884.1:p.Ile412Thr
ENST00000552678.1:c.198T>C
NM_000020.2:c.1193T>C , LRG_543t1:c.1193T>C	NP_000011.2:p.Ile398Thr
NM_001077401.1:c.1193T>C	NP_001070869.1:p.Ile398Thr
XM_005269235.2:c.1193T>C	XP_005269292.1:p.Ile398Thr
XM_011539008.1:c.923T>C	XP_011537310.1:p.Ile308Thr
XM_024449279.1:c.404T>C	XP_024305047.1:p.Ile135Thr
NM_000020.3:c.1193T>C MANE Select	NP_000011.2:p.Ile398Thr
NM_001077401.2:c.1193T>C	NP_001070869.1:p.Ile398Thr