Canonical Allele Identifier: CA347266518

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828472G>T (hg19) ; chr2:g.73601345G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601345G>T , CM000664.2:g.73601345G>T	GRCh38
NC_000002.11:g.73828472G>T , CM000664.1:g.73828472G>T	GRCh37
NC_000002.10:g.73681980G>T	NCBI36
NG_011690.1:g.220593G>T , LRG_741:g.220593G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11642G>T	ENSP00000507671.1:p.Gly3881Val
ENST00000682801.1:c.11167-840G>T	ENSP00000507862.1:n.11167-840G>T
ENST00000682859.1:c.11642G>T	ENSP00000508222.1:p.Gly3881Val
ENST00000683791.1:c.4728G>T
ENST00000684460.1:c.8923G>T
ENST00000684548.1:c.11642G>T	ENSP00000507421.1:p.Gly3881Val
ENST00000684590.1:c.6089G>T	ENSP00000507376.1:p.Gly2030Val
ENST00000684656.1:c.9107G>T
ENST00000613296.6:c.12023G>T MANE Select	ENSP00000482968.1:p.Gly4008Val
ENST00000651057.1:c.2177G>T	ENSP00000498504.1:p.Gly726Val
ENST00000651434.1:c.3379G>T
ENST00000651750.1:c.1260+464G>T
ENST00000652487.1:c.3194G>T
ENST00000464408.3:n.198G>T
ENST00000484298.5:c.11897G>T	ENSP00000478155.1:p.Gly3966Val
ENST00000613296.4:c.12023G>T	ENSP00000482968.1:p.Gly4008Val
ENST00000620466.4:n.5826G>T
NM_015120.4:c.12026G>T , LRG_741t1:c.12026G>T	NP_055935.4:p.Gly4009Val
NM_001378454.1:c.12023G>T MANE Select	NP_001365383.1:p.Gly4008Val