Canonical Allele Identifier: CA347266998

Gene: ALMS1

Linked Data

• dbSNP Id: rs1418690227
• gnomAD v2: 2-73717113-T-C
• gnomAD v4: 2-73489986-T-C
• MyVariant Identifiers: chr2:g.73717113T>C (hg19) ; chr2:g.73489986T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489986T>C , CM000664.2:g.73489986T>C	GRCh38
NC_000002.11:g.73717113T>C , CM000664.1:g.73717113T>C	GRCh37
NC_000002.10:g.73570621T>C	NCBI36
NG_011690.1:g.109234T>C , LRG_741:g.109234T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7646T>C	ENSP00000507671.1:p.Met2549Thr
ENST00000682801.1:c.7646T>C	ENSP00000507862.1:p.Met2549Thr
ENST00000682859.1:c.7646T>C	ENSP00000508222.1:p.Met2549Thr
ENST00000683791.1:c.1038T>C
ENST00000684460.1:c.5098T>C
ENST00000684548.1:c.7646T>C	ENSP00000507421.1:p.Met2549Thr
ENST00000684590.1:c.2093T>C	ENSP00000507376.1:p.Met698Thr
ENST00000684656.1:c.5098T>C
ENST00000613296.6:c.8027T>C MANE Select	ENSP00000482968.1:p.Met2676Thr
ENST00000651434.1:c.896-29789T>C
ENST00000423048.5:c.2858T>C	ENSP00000399833.1:p.Met953Thr
ENST00000484298.5:c.7901T>C	ENSP00000478155.1:p.Met2634Thr
ENST00000613296.4:c.8027T>C	ENSP00000482968.1:p.Met2676Thr
ENST00000614410.4:c.8027T>C	ENSP00000479094.1:p.Met2676Thr
ENST00000620466.4:n.1830T>C
NM_015120.4:c.8030T>C , LRG_741t1:c.8030T>C	NP_055935.4:p.Met2677Thr
NM_001378454.1:c.8027T>C MANE Select	NP_001365383.1:p.Met2676Thr