Canonical Allele Identifier: CA384898291

Gene: ACVRL1

Linked Data

• dbSNP Id: rs2139066855
• COSMIC: COSM3462108 ; COSM3462109
• MyVariant Identifiers: chr12:g.52307352C>T (hg19) ; chr12:g.51913568C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913568C>T , CM000674.2:g.51913568C>T	GRCh38
NC_000012.11:g.52307352C>T , CM000674.1:g.52307352C>T	GRCh37
NC_000012.10:g.50593619C>T	NCBI36
NG_009549.1:g.11151C>T , LRG_543:g.11151C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+218C>T	ENSP00000446724.2:n.355+218C>T
ENST00000551576.6:c.323C>T	ENSP00000455848.2:p.Pro108Leu
ENST00000552678.2:c.323C>T	ENSP00000457394.2:p.Pro108Leu
ENST00000388922.9:c.323C>T MANE Select	ENSP00000373574.4:p.Pro108Leu
ENST00000388922.8:c.323C>T	ENSP00000373574.4:p.Pro108Leu
ENST00000419526.6:c.104-871C>T	ENSP00000392492.2:n.104-871C>T
ENST00000547400.5:c.355+218C>T	ENSP00000446724.1:n.355+218C>T
ENST00000550683.5:c.365C>T	ENSP00000447884.1:p.Pro122Leu
NM_000020.2:c.323C>T , LRG_543t1:c.323C>T	NP_000011.2:p.Pro108Leu
NM_001077401.1:c.323C>T	NP_001070869.1:p.Pro108Leu
XM_005269235.2:c.323C>T	XP_005269292.1:p.Pro108Leu
XM_011539008.1:c.355+218C>T	XP_011537310.1:n.355+218C>T
XM_024449279.1:c.-367C>T	XP_024305047.1:n.-367C>T
NM_000020.3:c.323C>T MANE Select	NP_000011.2:p.Pro108Leu
NM_001077401.2:c.323C>T	NP_001070869.1:p.Pro108Leu