Canonical Allele Identifier: CA6572915

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2062847
• ClinVar RCV Id: RCV002958050
• dbSNP Id: rs756100938
• ExAC: 12:52307528 T / C
• gnomAD v2: 12-52307528-T-C
• gnomAD v3: 12-51913744-T-C
• gnomAD v4: 12-51913744-T-C
• MyVariant Identifiers: chr12:g.52307528T>C (hg19) ; chr12:g.51913744T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913744T>C , CM000674.2:g.51913744T>C	GRCh38
NC_000012.11:g.52307528T>C , CM000674.1:g.52307528T>C	GRCh37
NC_000012.10:g.50593795T>C	NCBI36
NG_009549.1:g.11327T>C , LRG_543:g.11327T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+394T>C	ENSP00000446724.2:n.355+394T>C
ENST00000551576.6:c.499T>C	ENSP00000455848.2:p.Ser167Pro
ENST00000552678.2:c.499T>C	ENSP00000457394.2:p.Ser167Pro
ENST00000388922.9:c.499T>C MANE Select	ENSP00000373574.4:p.Ser167Pro
ENST00000388922.8:c.499T>C	ENSP00000373574.4:p.Ser167Pro
ENST00000419526.6:c.104-695T>C	ENSP00000392492.2:n.104-695T>C
ENST00000547400.5:c.355+394T>C	ENSP00000446724.1:n.355+394T>C
ENST00000550683.5:c.541T>C	ENSP00000447884.1:p.Ser181Pro
NM_000020.2:c.499T>C , LRG_543t1:c.499T>C	NP_000011.2:p.Ser167Pro
NM_001077401.1:c.499T>C	NP_001070869.1:p.Ser167Pro
XM_005269235.2:c.499T>C	XP_005269292.1:p.Ser167Pro
XM_011539008.1:c.355+394T>C	XP_011537310.1:n.355+394T>C
XM_024449279.1:c.-191T>C	XP_024305047.1:n.-191T>C
NM_000020.3:c.499T>C MANE Select	NP_000011.2:p.Ser167Pro
NM_001077401.2:c.499T>C	NP_001070869.1:p.Ser167Pro