Canonical Allele Identifier: CA347289912

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453413C>T , CM000664.2:g.73453413C>T	GRCh38
NC_000002.11:g.73680540C>T , CM000664.1:g.73680540C>T	GRCh37
NC_000002.10:g.73534048C>T	NCBI36
NG_011690.1:g.72661C>T , LRG_741:g.72661C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.6886C>T MANE Select	NP_001365383.1:p.Gln2296Ter
ENST00000613296.6:c.6886C>T MANE Select	ENSP00000482968.1:p.Gln2296Ter
NM_015120.4:c.6889C>T , LRG_741t1:c.6889C>T	NP_055935.4:p.Gln2297Ter
ENST00000423048.5:c.1717C>T	ENSP00000399833.1:p.Gln573Ter
ENST00000484298.5:c.6760C>T	ENSP00000478155.1:p.Gln2254Ter
ENST00000613296.4:c.6886C>T	ENSP00000482968.1:p.Gln2296Ter
ENST00000614410.4:c.6886C>T	ENSP00000479094.1:p.Gln2296Ter
ENST00000620466.4:n.689C>T
ENST00000651434.1:c.107C>T
ENST00000682565.1:c.6505C>T	ENSP00000507671.1:p.Gln2169Ter
ENST00000682801.1:c.6505C>T	ENSP00000507862.1:p.Gln2169Ter
ENST00000682859.1:c.6505C>T	ENSP00000508222.1:p.Gln2169Ter
ENST00000683791.1:c.685+21122C>T
ENST00000684197.1:n.1855C>T
ENST00000684460.1:c.3957C>T
ENST00000684548.1:c.6505C>T	ENSP00000507421.1:p.Gln2169Ter
ENST00000684590.1:c.1003C>T	ENSP00000507376.1:p.Gln335Ter
ENST00000684656.1:c.3957C>T