Canonical Allele Identifier: CA479816178

Gene: ACVRL1

Linked Data

• COSMIC: COSM6000744 ; COSM6000745
• MyVariant Identifiers: chr12:g.52314545C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920761C>T , CM000674.2:g.51920761C>T	GRCh38
NC_000012.11:g.52314545C>T , CM000674.1:g.52314545C>T	GRCh37
NC_000012.10:g.50600812C>T	NCBI36
NG_009549.1:g.18344C>T , LRG_543:g.18344C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1110C>T	ENSP00000446724.2:p.Val370=
ENST00000551576.6:c.1380C>T	ENSP00000455848.2:p.Val460=
ENST00000388922.9:c.1380C>T MANE Select	ENSP00000373574.4:p.Val460=
ENST00000388922.8:c.1380C>T	ENSP00000373574.4:p.Val460=
ENST00000419526.6:c.858C>T	ENSP00000392492.2:p.Val286=
ENST00000550683.5:c.1422C>T	ENSP00000447884.1:p.Val474=
NM_000020.2:c.1380C>T , LRG_543t1:c.1380C>T	NP_000011.2:p.Val460=
NM_001077401.1:c.1380C>T	NP_001070869.1:p.Val460=
XM_005269235.2:c.1380C>T	XP_005269292.1:p.Val460=
XM_011539008.1:c.1110C>T	XP_011537310.1:p.Val370=
XM_024449279.1:c.591C>T	XP_024305047.1:p.Val197=
NM_000020.3:c.1380C>T MANE Select	NP_000011.2:p.Val460=
NM_001077401.2:c.1380C>T	NP_001070869.1:p.Val460=