Canonical Allele Identifier: CA384905565

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52314588A>C (hg19) ; chr12:g.51920804A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920804A>C , CM000674.2:g.51920804A>C	GRCh38
NC_000012.11:g.52314588A>C , CM000674.1:g.52314588A>C	GRCh37
NC_000012.10:g.50600855A>C	NCBI36
NG_009549.1:g.18387A>C , LRG_543:g.18387A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1153A>C	ENSP00000446724.2:p.Asn385His
ENST00000551576.6:c.1423A>C	ENSP00000455848.2:p.Asn475His
ENST00000388922.9:c.1423A>C MANE Select	ENSP00000373574.4:p.Asn475His
ENST00000388922.8:c.1423A>C	ENSP00000373574.4:p.Asn475His
ENST00000419526.6:c.901A>C	ENSP00000392492.2:p.Asn301His
ENST00000550683.5:c.1465A>C	ENSP00000447884.1:p.Asn489His
NM_000020.2:c.1423A>C , LRG_543t1:c.1423A>C	NP_000011.2:p.Asn475His
NM_001077401.1:c.1423A>C	NP_001070869.1:p.Asn475His
XM_005269235.2:c.1423A>C	XP_005269292.1:p.Asn475His
XM_011539008.1:c.1153A>C	XP_011537310.1:p.Asn385His
XM_024449279.1:c.634A>C	XP_024305047.1:p.Asn212His
NM_000020.3:c.1423A>C MANE Select	NP_000011.2:p.Asn475His
NM_001077401.2:c.1423A>C	NP_001070869.1:p.Asn475His