Canonical Allele Identifier: CA347293026

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73455210C>G , CM000664.2:g.73455210C>G	GRCh38
NC_000002.11:g.73682337C>G , CM000664.1:g.73682337C>G	GRCh37
NC_000002.10:g.73535845C>G	NCBI36
NG_011690.1:g.74458C>G , LRG_741:g.74458C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.7589C>G MANE Select	NP_001365383.1:p.Ser2530Ter
ENST00000613296.6:c.7589C>G MANE Select	ENSP00000482968.1:p.Ser2530Ter
NM_015120.4:c.7592C>G , LRG_741t1:c.7592C>G	NP_055935.4:p.Ser2531Ter
ENST00000423048.5:c.2420C>G	ENSP00000399833.1:p.Ser807Ter
ENST00000484298.5:c.7463C>G	ENSP00000478155.1:p.Ser2488Ter
ENST00000613296.4:c.7589C>G	ENSP00000482968.1:p.Ser2530Ter
ENST00000614410.4:c.7589C>G	ENSP00000479094.1:p.Ser2530Ter
ENST00000620466.4:n.1392C>G
ENST00000651434.1:c.810C>G
ENST00000682565.1:c.7208C>G	ENSP00000507671.1:p.Ser2403Ter
ENST00000682801.1:c.7208C>G	ENSP00000507862.1:p.Ser2403Ter
ENST00000682859.1:c.7208C>G	ENSP00000508222.1:p.Ser2403Ter
ENST00000683791.1:c.685+22919C>G
ENST00000684197.1:n.2558C>G
ENST00000684460.1:c.4660C>G
ENST00000684548.1:c.7208C>G	ENSP00000507421.1:p.Ser2403Ter
ENST00000684590.1:c.1658-3C>G	ENSP00000507376.1:n.1658-3C>G
ENST00000684656.1:c.4660C>G