Canonical Allele Identifier: CA6573175

Gene: ACVRL1

Linked Data

• dbSNP Id: rs753001555
• ExAC: 12:52314590 C / T
• gnomAD v2: 12-52314590-C-T
• gnomAD v3: 12-51920806-C-T
• gnomAD v4: 12-51920806-C-T
• MyVariant Identifiers: chr12:g.52314590C>T (hg19) ; chr12:g.51920806C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920806C>T , CM000674.2:g.51920806C>T	GRCh38
NC_000012.11:g.52314590C>T , CM000674.1:g.52314590C>T	GRCh37
NC_000012.10:g.50600857C>T	NCBI36
NG_009549.1:g.18389C>T , LRG_543:g.18389C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1155C>T	ENSP00000446724.2:p.Asn385=
ENST00000551576.6:c.1425C>T	ENSP00000455848.2:p.Asn475=
ENST00000388922.9:c.1425C>T MANE Select	ENSP00000373574.4:p.Asn475=
ENST00000388922.8:c.1425C>T	ENSP00000373574.4:p.Asn475=
ENST00000419526.6:c.903C>T	ENSP00000392492.2:p.Asn301=
ENST00000550683.5:c.1467C>T	ENSP00000447884.1:p.Asn489=
NM_000020.2:c.1425C>T , LRG_543t1:c.1425C>T	NP_000011.2:p.Asn475=
NM_001077401.1:c.1425C>T	NP_001070869.1:p.Asn475=
XM_005269235.2:c.1425C>T	XP_005269292.1:p.Asn475=
XM_011539008.1:c.1155C>T	XP_011537310.1:p.Asn385=
XM_024449279.1:c.636C>T	XP_024305047.1:p.Asn212=
NM_000020.3:c.1425C>T MANE Select	NP_000011.2:p.Asn475=
NM_001077401.2:c.1425C>T	NP_001070869.1:p.Asn475=