Canonical Allele Identifier: CA2795984034

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51921083T>C , CM000674.2:g.51921083T>C	GRCh38
NC_000012.11:g.52314867T>C , CM000674.1:g.52314867T>C	GRCh37
NC_000012.10:g.50601134T>C	NCBI36
NG_009549.1:g.18666T>C , LRG_543:g.18666T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*190T>C	ENSP00000455848.2:n.*190T>C
ENST00000388922.9:c.*190T>C MANE Select	ENSP00000373574.4:n.*190T>C
ENST00000419526.6:c.*190T>C	ENSP00000392492.2:n.*190T>C
ENST00000550683.5:c.*190T>C	ENSP00000447884.1:n.*190T>C
NM_000020.2:c.*190T>C , LRG_543t1:c.*190T>C	NP_000011.2:n.*190T>C
NM_001077401.1:c.*190T>C	NP_001070869.1:n.*190T>C
XM_005269235.2:c.*190T>C	XP_005269292.1:n.*190T>C
XM_011539008.1:c.*190T>C	XP_011537310.1:n.*190T>C
XM_024449279.1:c.*190T>C	XP_024305047.1:n.*190T>C
NM_000020.3:c.*190T>C MANE Select	NP_000011.2:n.*190T>C
NM_001077401.2:c.*190T>C	NP_001070869.1:n.*190T>C