Canonical Allele Identifier: CA1714341

Gene: ALMS1

Linked Data

• dbSNP Id: rs772306791
• ExAC: 2:73716840 G / C
• gnomAD v2: 2-73716840-G-C
• gnomAD v4: 2-73489713-G-C
• MyVariant Identifiers: chr2:g.73716840G>C (hg19) ; chr2:g.73489713G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489713G>C , CM000664.2:g.73489713G>C	GRCh38
NC_000002.11:g.73716840G>C , CM000664.1:g.73716840G>C	GRCh37
NC_000002.10:g.73570348G>C	NCBI36
NG_011690.1:g.108961G>C , LRG_741:g.108961G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7373G>C	ENSP00000507671.1:p.Gly2458Ala
ENST00000682801.1:c.7373G>C	ENSP00000507862.1:p.Gly2458Ala
ENST00000682859.1:c.7373G>C	ENSP00000508222.1:p.Gly2458Ala
ENST00000683791.1:c.765G>C
ENST00000684460.1:c.4825G>C
ENST00000684548.1:c.7373G>C	ENSP00000507421.1:p.Gly2458Ala
ENST00000684590.1:c.1820G>C	ENSP00000507376.1:p.Gly607Ala
ENST00000684656.1:c.4825G>C
ENST00000613296.6:c.7754G>C MANE Select	ENSP00000482968.1:p.Gly2585Ala
ENST00000651434.1:c.896-30062G>C
ENST00000423048.5:c.2585G>C	ENSP00000399833.1:p.Gly862Ala
ENST00000484298.5:c.7628G>C	ENSP00000478155.1:p.Gly2543Ala
ENST00000613296.4:c.7754G>C	ENSP00000482968.1:p.Gly2585Ala
ENST00000614410.4:c.7754G>C	ENSP00000479094.1:p.Gly2585Ala
ENST00000620466.4:n.1557G>C
NM_015120.4:c.7757G>C , LRG_741t1:c.7757G>C	NP_055935.4:p.Gly2586Ala
NM_001378454.1:c.7754G>C MANE Select	NP_001365383.1:p.Gly2585Ala