Canonical Allele Identifier: CA384896605

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52306299T>A (hg19) ; chr12:g.51912515T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912515T>A , CM000674.2:g.51912515T>A	GRCh38
NC_000012.11:g.52306299T>A , CM000674.1:g.52306299T>A	GRCh37
NC_000012.10:g.50592566T>A	NCBI36
NG_009549.1:g.10098T>A , LRG_543:g.10098T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.83T>A	ENSP00000446724.2:p.Leu28Gln
ENST00000551576.6:c.41T>A	ENSP00000455848.2:p.Leu14Gln
ENST00000552678.2:c.41T>A	ENSP00000457394.2:p.Leu14Gln
ENST00000388922.9:c.41T>A MANE Select	ENSP00000373574.4:p.Leu14Gln
ENST00000388922.8:c.41T>A	ENSP00000373574.4:p.Leu14Gln
ENST00000419526.6:c.83T>A	ENSP00000392492.2:p.Leu28Gln
ENST00000547400.5:c.83T>A	ENSP00000446724.1:p.Leu28Gln
ENST00000550683.5:c.83T>A	ENSP00000447884.1:p.Leu28Gln
ENST00000551576.5:c.41T>A	ENSP00000455848.1:p.Leu14Gln
NM_000020.2:c.41T>A , LRG_543t1:c.41T>A	NP_000011.2:p.Leu14Gln
NM_001077401.1:c.41T>A	NP_001070869.1:p.Leu14Gln
XM_005269235.2:c.41T>A	XP_005269292.1:p.Leu14Gln
XM_011539008.1:c.83T>A	XP_011537310.1:p.Leu28Gln
NM_000020.3:c.41T>A MANE Select	NP_000011.2:p.Leu14Gln
NM_001077401.2:c.41T>A	NP_001070869.1:p.Leu14Gln