Canonical Allele Identifier: CA347267240

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828555A>T (hg19) ; chr2:g.73601428A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601428A>T , CM000664.2:g.73601428A>T	GRCh38
NC_000002.11:g.73828555A>T , CM000664.1:g.73828555A>T	GRCh37
NC_000002.10:g.73682063A>T	NCBI36
NG_011690.1:g.220676A>T , LRG_741:g.220676A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11725A>T	ENSP00000507671.1:p.Thr3909Ser
ENST00000682801.1:c.11167-757A>T	ENSP00000507862.1:n.11167-757A>T
ENST00000682859.1:c.11725A>T	ENSP00000508222.1:p.Thr3909Ser
ENST00000683791.1:c.4811A>T
ENST00000684460.1:c.9006A>T
ENST00000684548.1:c.11725A>T	ENSP00000507421.1:p.Thr3909Ser
ENST00000684590.1:c.6172A>T	ENSP00000507376.1:p.Thr2058Ser
ENST00000684656.1:c.9190A>T
ENST00000613296.6:c.12106A>T MANE Select	ENSP00000482968.1:p.Thr4036Ser
ENST00000651057.1:c.2260A>T	ENSP00000498504.1:p.Thr754Ser
ENST00000651434.1:c.3462A>T
ENST00000651750.1:c.1260+547A>T
ENST00000652487.1:c.3277A>T
ENST00000464408.3:n.281A>T
ENST00000484298.5:c.11980A>T	ENSP00000478155.1:p.Thr3994Ser
ENST00000613296.4:c.12106A>T	ENSP00000482968.1:p.Thr4036Ser
ENST00000620466.4:n.5909A>T
NM_015120.4:c.12109A>T , LRG_741t1:c.12109A>T	NP_055935.4:p.Thr4037Ser
NM_001378454.1:c.12106A>T MANE Select	NP_001365383.1:p.Thr4036Ser