Canonical Allele Identifier: CA427001262

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73490203-G-T
• MyVariant Identifiers: chr2:g.73717330G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490203G>T , CM000664.2:g.73490203G>T	GRCh38
NC_000002.11:g.73717330G>T , CM000664.1:g.73717330G>T	GRCh37
NC_000002.10:g.73570838G>T	NCBI36
NG_011690.1:g.109451G>T , LRG_741:g.109451G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7863G>T	ENSP00000507671.1:p.Gly2621=
ENST00000682801.1:c.7863G>T	ENSP00000507862.1:p.Gly2621=
ENST00000682859.1:c.7863G>T	ENSP00000508222.1:p.Gly2621=
ENST00000683791.1:c.1255G>T
ENST00000684460.1:c.5315G>T
ENST00000684548.1:c.7863G>T	ENSP00000507421.1:p.Gly2621=
ENST00000684590.1:c.2310G>T	ENSP00000507376.1:p.Gly770=
ENST00000684656.1:c.5315G>T
ENST00000613296.6:c.8244G>T MANE Select	ENSP00000482968.1:p.Gly2748=
ENST00000651434.1:c.896-29572G>T
ENST00000423048.5:c.3030+45G>T	ENSP00000399833.1:n.3030+45G>T
ENST00000484298.5:c.8118G>T	ENSP00000478155.1:p.Gly2706=
ENST00000613296.4:c.8244G>T	ENSP00000482968.1:p.Gly2748=
ENST00000614410.4:c.8244G>T	ENSP00000479094.1:p.Gly2748=
ENST00000620466.4:n.2047G>T
NM_015120.4:c.8247G>T , LRG_741t1:c.8247G>T	NP_055935.4:p.Gly2749=
NM_001378454.1:c.8244G>T MANE Select	NP_001365383.1:p.Gly2748=