Canonical Allele Identifier: CA347267085

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717125T>C (hg19) ; chr2:g.73489998T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489998T>C , CM000664.2:g.73489998T>C	GRCh38
NC_000002.11:g.73717125T>C , CM000664.1:g.73717125T>C	GRCh37
NC_000002.10:g.73570633T>C	NCBI36
NG_011690.1:g.109246T>C , LRG_741:g.109246T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7658T>C	ENSP00000507671.1:p.Leu2553Pro
ENST00000682801.1:c.7658T>C	ENSP00000507862.1:p.Leu2553Pro
ENST00000682859.1:c.7658T>C	ENSP00000508222.1:p.Leu2553Pro
ENST00000683791.1:c.1050T>C
ENST00000684460.1:c.5110T>C
ENST00000684548.1:c.7658T>C	ENSP00000507421.1:p.Leu2553Pro
ENST00000684590.1:c.2105T>C	ENSP00000507376.1:p.Leu702Pro
ENST00000684656.1:c.5110T>C
ENST00000613296.6:c.8039T>C MANE Select	ENSP00000482968.1:p.Leu2680Pro
ENST00000651434.1:c.896-29777T>C
ENST00000423048.5:c.2870T>C	ENSP00000399833.1:p.Leu957Pro
ENST00000484298.5:c.7913T>C	ENSP00000478155.1:p.Leu2638Pro
ENST00000613296.4:c.8039T>C	ENSP00000482968.1:p.Leu2680Pro
ENST00000614410.4:c.8039T>C	ENSP00000479094.1:p.Leu2680Pro
ENST00000620466.4:n.1842T>C
NM_015120.4:c.8042T>C , LRG_741t1:c.8042T>C	NP_055935.4:p.Leu2681Pro
NM_001378454.1:c.8039T>C MANE Select	NP_001365383.1:p.Leu2680Pro