Canonical Allele Identifier: CA347266515

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73601345-G-C
• MyVariant Identifiers: chr2:g.73828472G>C (hg19) ; chr2:g.73601345G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11642G>C	ENSP00000507671.1:p.Gly3881Ala
ENST00000682801.1:c.11167-840G>C	ENSP00000507862.1:n.11167-840G>C
ENST00000682859.1:c.11642G>C	ENSP00000508222.1:p.Gly3881Ala
ENST00000683791.1:c.4728G>C
ENST00000684460.1:c.8923G>C
ENST00000684548.1:c.11642G>C	ENSP00000507421.1:p.Gly3881Ala
ENST00000684590.1:c.6089G>C	ENSP00000507376.1:p.Gly2030Ala
ENST00000684656.1:c.9107G>C
ENST00000613296.6:c.12023G>C MANE Select	ENSP00000482968.1:p.Gly4008Ala
ENST00000651057.1:c.2177G>C	ENSP00000498504.1:p.Gly726Ala
ENST00000651434.1:c.3379G>C
ENST00000651750.1:c.1260+464G>C
ENST00000652487.1:c.3194G>C
ENST00000464408.3:n.198G>C
ENST00000484298.5:c.11897G>C	ENSP00000478155.1:p.Gly3966Ala
ENST00000613296.4:c.12023G>C	ENSP00000482968.1:p.Gly4008Ala
ENST00000620466.4:n.5826G>C
NM_015120.4:c.12026G>C , LRG_741t1:c.12026G>C	NP_055935.4:p.Gly4009Ala
NM_001378454.1:c.12023G>C MANE Select	NP_001365383.1:p.Gly4008Ala