Canonical Allele Identifier: CA479816178
Gene: ACVRL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52314545C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920761C>T , CM000674.2:g.51920761C>T GRCh38
NC_000012.11:g.52314545C>T , CM000674.1:g.52314545C>T GRCh37
NC_000012.10:g.50600812C>T NCBI36
NG_009549.1:g.18344C>T , LRG_543:g.18344C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1380C>T MANE Select ENSP00000373574.4:p.Val460=
ENST00000388922.8:c.1380C>T ENSP00000373574.4:p.Val460=
ENST00000419526.6:c.858C>T ENSP00000392492.2:p.Val286=
ENST00000550683.5:c.1422C>T ENSP00000447884.1:p.Val474=
NM_000020.2:c.1380C>T , LRG_543t1:c.1380C>T NP_000011.2:p.Val460=
NM_001077401.1:c.1380C>T NP_001070869.1:p.Val460=
XM_005269235.2:c.1380C>T XP_005269292.1:p.Val460=
XM_011539008.1:c.1110C>T XP_011537310.1:p.Val370=
XM_024449279.1:c.591C>T XP_024305047.1:p.Val197=
NM_000020.3:c.1380C>T MANE Select NP_000011.2:p.Val460=
NM_001077401.2:c.1380C>T NP_001070869.1:p.Val460=