Canonical Allele Identifier: CA347282914

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799452A>C (hg19) ; chr2:g.73572325A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572325A>C , CM000664.2:g.73572325A>C	GRCh38
NC_000002.11:g.73799452A>C , CM000664.1:g.73799452A>C	GRCh37
NC_000002.10:g.73652960A>C	NCBI36
NG_011690.1:g.191573A>C , LRG_741:g.191573A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10067A>C	ENSP00000507671.1:p.Tyr3356Ser
ENST00000682801.1:c.10067A>C	ENSP00000507862.1:p.Tyr3356Ser
ENST00000682859.1:c.10067A>C	ENSP00000508222.1:p.Tyr3356Ser
ENST00000683791.1:c.3153A>C
ENST00000684460.1:c.7348A>C
ENST00000684548.1:c.10067A>C	ENSP00000507421.1:p.Tyr3356Ser
ENST00000684590.1:c.4514A>C	ENSP00000507376.1:p.Tyr1505Ser
ENST00000684656.1:c.7393A>C
ENST00000613296.6:c.10448A>C MANE Select	ENSP00000482968.1:p.Tyr3483Ser
ENST00000651057.1:c.602A>C	ENSP00000498504.1:p.Tyr201Ser
ENST00000651434.1:c.1804A>C
ENST00000652487.1:c.1545A>C
ENST00000423048.5:c.3939A>C	ENSP00000399833.1:n.3939A>C
ENST00000484298.5:c.10322A>C	ENSP00000478155.1:p.Tyr3441Ser
ENST00000613296.4:c.10448A>C	ENSP00000482968.1:p.Tyr3483Ser
ENST00000614410.4:c.10448A>C	ENSP00000479094.1:p.Tyr3483Ser
ENST00000620466.4:n.4251A>C
NM_015120.4:c.10451A>C , LRG_741t1:c.10451A>C	NP_055935.4:p.Tyr3484Ser
NM_001378454.1:c.10448A>C MANE Select	NP_001365383.1:p.Tyr3483Ser