Canonical Allele Identifier: CA347267465

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717191T>C (hg19) ; chr2:g.73490064T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490064T>C , CM000664.2:g.73490064T>C	GRCh38
NC_000002.11:g.73717191T>C , CM000664.1:g.73717191T>C	GRCh37
NC_000002.10:g.73570699T>C	NCBI36
NG_011690.1:g.109312T>C , LRG_741:g.109312T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7724T>C	ENSP00000507671.1:p.Met2575Thr
ENST00000682801.1:c.7724T>C	ENSP00000507862.1:p.Met2575Thr
ENST00000682859.1:c.7724T>C	ENSP00000508222.1:p.Met2575Thr
ENST00000683791.1:c.1116T>C
ENST00000684460.1:c.5176T>C
ENST00000684548.1:c.7724T>C	ENSP00000507421.1:p.Met2575Thr
ENST00000684590.1:c.2171T>C	ENSP00000507376.1:p.Met724Thr
ENST00000684656.1:c.5176T>C
ENST00000613296.6:c.8105T>C MANE Select	ENSP00000482968.1:p.Met2702Thr
ENST00000651434.1:c.896-29711T>C
ENST00000423048.5:c.2936T>C	ENSP00000399833.1:p.Met979Thr
ENST00000484298.5:c.7979T>C	ENSP00000478155.1:p.Met2660Thr
ENST00000613296.4:c.8105T>C	ENSP00000482968.1:p.Met2702Thr
ENST00000614410.4:c.8105T>C	ENSP00000479094.1:p.Met2702Thr
ENST00000620466.4:n.1908T>C
NM_015120.4:c.8108T>C , LRG_741t1:c.8108T>C	NP_055935.4:p.Met2703Thr
NM_001378454.1:c.8105T>C MANE Select	NP_001365383.1:p.Met2702Thr