Canonical Allele Identifier: CA6572916

Gene: ACVRL1

Linked Data

• dbSNP Id: rs766154423
• ExAC: 12:52307539 C / T
• gnomAD v2: 12-52307539-C-T
• gnomAD v3: 12-51913755-C-T
• gnomAD v4: 12-51913755-C-T
• COSMIC: COSM3688274 ; COSM3688275
• MyVariant Identifiers: chr12:g.52307539C>T (hg19) ; chr12:g.51913755C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913755C>T , CM000674.2:g.51913755C>T	GRCh38
NC_000012.11:g.52307539C>T , CM000674.1:g.52307539C>T	GRCh37
NC_000012.10:g.50593806C>T	NCBI36
NG_009549.1:g.11338C>T , LRG_543:g.11338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+405C>T	ENSP00000446724.2:n.355+405C>T
ENST00000551576.6:c.510C>T	ENSP00000455848.2:p.Gly170=
ENST00000552678.2:c.510C>T	ENSP00000457394.2:p.Gly170=
ENST00000388922.9:c.510C>T MANE Select	ENSP00000373574.4:p.Gly170=
ENST00000388922.8:c.510C>T	ENSP00000373574.4:p.Gly170=
ENST00000419526.6:c.104-684C>T	ENSP00000392492.2:n.104-684C>T
ENST00000547400.5:c.355+405C>T	ENSP00000446724.1:n.355+405C>T
ENST00000550683.5:c.552C>T	ENSP00000447884.1:p.Gly184=
NM_000020.2:c.510C>T , LRG_543t1:c.510C>T	NP_000011.2:p.Gly170=
NM_001077401.1:c.510C>T	NP_001070869.1:p.Gly170=
XM_005269235.2:c.510C>T	XP_005269292.1:p.Gly170=
XM_011539008.1:c.355+405C>T	XP_011537310.1:n.355+405C>T
XM_024449279.1:c.-180C>T	XP_024305047.1:n.-180C>T
NM_000020.3:c.510C>T MANE Select	NP_000011.2:p.Gly170=
NM_001077401.2:c.510C>T	NP_001070869.1:p.Gly170=