Canonical Allele Identifier: CA384900963

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1940807179
• gnomAD v3: 12-51915368-G-T
• gnomAD v4: 12-51915368-G-T
• MyVariant Identifiers: chr12:g.52309152G>T (hg19) ; chr12:g.51915368G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915368G>T , CM000674.2:g.51915368G>T	GRCh38
NC_000012.11:g.52309152G>T , CM000674.1:g.52309152G>T	GRCh37
NC_000012.10:g.50595419G>T	NCBI36
NG_009549.1:g.12951G>T , LRG_543:g.12951G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.646G>T	ENSP00000446724.2:p.Ala216Ser
ENST00000551576.6:c.916G>T	ENSP00000455848.2:p.Ala306Ser
ENST00000552678.2:c.916G>T	ENSP00000457394.2:p.Ala306Ser
ENST00000388922.9:c.916G>T MANE Select	ENSP00000373574.4:p.Ala306Ser
ENST00000388922.8:c.916G>T	ENSP00000373574.4:p.Ala306Ser
ENST00000419526.6:c.394G>T	ENSP00000392492.2:p.Ala132Ser
ENST00000550683.5:c.958G>T	ENSP00000447884.1:p.Ala320Ser
NM_000020.2:c.916G>T , LRG_543t1:c.916G>T	NP_000011.2:p.Ala306Ser
NM_001077401.1:c.916G>T	NP_001070869.1:p.Ala306Ser
XM_005269235.2:c.916G>T	XP_005269292.1:p.Ala306Ser
XM_011539008.1:c.646G>T	XP_011537310.1:p.Ala216Ser
XM_024449279.1:c.127G>T	XP_024305047.1:p.Ala43Ser
NM_000020.3:c.916G>T MANE Select	NP_000011.2:p.Ala306Ser
NM_001077401.2:c.916G>T	NP_001070869.1:p.Ala306Ser