Canonical Allele Identifier: CA1713934

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73452294G>C , CM000664.2:g.73452294G>C	GRCh38
NC_000002.11:g.73679421G>C , CM000664.1:g.73679421G>C	GRCh37
NC_000002.10:g.73532929G>C	NCBI36
NG_011690.1:g.71542G>C , LRG_741:g.71542G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5767G>C MANE Select	NP_001365383.1:p.Val1923Leu
ENST00000613296.6:c.5767G>C MANE Select	ENSP00000482968.1:p.Val1923Leu
NM_015120.4:c.5770G>C , LRG_741t1:c.5770G>C	NP_055935.4:p.Val1924Leu
ENST00000423048.5:c.598G>C	ENSP00000399833.1:p.Val200Leu
ENST00000484298.5:c.5641G>C	ENSP00000478155.1:p.Val1881Leu
ENST00000613296.4:c.5767G>C	ENSP00000482968.1:p.Val1923Leu
ENST00000614410.4:c.5767G>C	ENSP00000479094.1:p.Val1923Leu
ENST00000682565.1:c.5386G>C	ENSP00000507671.1:p.Val1796Leu
ENST00000682801.1:c.5386G>C	ENSP00000507862.1:p.Val1796Leu
ENST00000682859.1:c.5386G>C	ENSP00000508222.1:p.Val1796Leu
ENST00000683791.1:c.685+20003G>C
ENST00000684197.1:n.736G>C
ENST00000684460.1:c.2838G>C
ENST00000684548.1:c.5386G>C	ENSP00000507421.1:p.Val1796Leu
ENST00000684656.1:c.2838G>C