Canonical Allele Identifier: CA347276451

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73557273C>T , CM000664.2:g.73557273C>T	GRCh38
NC_000002.11:g.73784400C>T , CM000664.1:g.73784400C>T	GRCh37
NC_000002.10:g.73637908C>T	NCBI36
NG_011690.1:g.176521C>T , LRG_741:g.176521C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10132C>T MANE Select	NP_001365383.1:p.Gln3378Ter
ENST00000613296.6:c.10132C>T MANE Select	ENSP00000482968.1:p.Gln3378Ter
NM_015120.4:c.10135C>T , LRG_741t1:c.10135C>T	NP_055935.4:p.Gln3379Ter
ENST00000423048.5:c.3623C>T	ENSP00000399833.1:n.3623C>T
ENST00000484298.5:c.10006C>T	ENSP00000478155.1:p.Gln3336Ter
ENST00000613296.4:c.10132C>T	ENSP00000482968.1:p.Gln3378Ter
ENST00000614410.4:c.10132C>T	ENSP00000479094.1:p.Gln3378Ter
ENST00000620466.4:n.3935C>T
ENST00000651057.1:c.286C>T	ENSP00000498504.1:p.Gln96Ter
ENST00000651434.1:c.1488C>T
ENST00000652487.1:c.1229C>T
ENST00000682565.1:c.9751C>T	ENSP00000507671.1:p.Gln3251Ter
ENST00000682801.1:c.9751C>T	ENSP00000507862.1:p.Gln3251Ter
ENST00000682859.1:c.9751C>T	ENSP00000508222.1:p.Gln3251Ter
ENST00000683791.1:c.3089+6836C>T
ENST00000684460.1:c.7032C>T
ENST00000684548.1:c.9751C>T	ENSP00000507421.1:p.Gln3251Ter
ENST00000684590.1:c.4198C>T	ENSP00000507376.1:p.Gln1400Ter
ENST00000684656.1:c.7077C>T