Canonical Allele Identifier: CA245043

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 197093
• ClinVar RCV Id: RCV000178021 ; RCV001078539
• dbSNP Id: rs76038779
• ExAC: 12:52307513 C / T
• gnomAD v2: 12-52307513-C-T
• gnomAD v3: 12-51913729-C-T
• gnomAD v4: 12-51913729-C-T
• MyVariant Identifiers: chr12:g.52307513C>T (hg19) ; chr12:g.51913729C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913729C>T , CM000674.2:g.51913729C>T	GRCh38
NC_000012.11:g.52307513C>T , CM000674.1:g.52307513C>T	GRCh37
NC_000012.10:g.50593780C>T	NCBI36
NG_009549.1:g.11312C>T , LRG_543:g.11312C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+379C>T	ENSP00000446724.2:n.355+379C>T
ENST00000551576.6:c.484C>T	ENSP00000455848.2:p.Leu162Phe
ENST00000552678.2:c.484C>T	ENSP00000457394.2:p.Leu162Phe
ENST00000388922.9:c.484C>T MANE Select	ENSP00000373574.4:p.Leu162Phe
ENST00000388922.8:c.484C>T	ENSP00000373574.4:p.Leu162Phe
ENST00000419526.6:c.104-710C>T	ENSP00000392492.2:n.104-710C>T
ENST00000547400.5:c.355+379C>T	ENSP00000446724.1:n.355+379C>T
ENST00000550683.5:c.526C>T	ENSP00000447884.1:p.Leu176Phe
NM_000020.2:c.484C>T , LRG_543t1:c.484C>T	NP_000011.2:p.Leu162Phe
NM_001077401.1:c.484C>T	NP_001070869.1:p.Leu162Phe
XM_005269235.2:c.484C>T	XP_005269292.1:p.Leu162Phe
XM_011539008.1:c.355+379C>T	XP_011537310.1:n.355+379C>T
XM_024449279.1:c.-206C>T	XP_024305047.1:n.-206C>T
NM_000020.3:c.484C>T MANE Select	NP_000011.2:p.Leu162Phe
NM_001077401.2:c.484C>T	NP_001070869.1:p.Leu162Phe