Canonical Allele Identifier: CA427024344

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799456T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572329T>C , CM000664.2:g.73572329T>C	GRCh38
NC_000002.11:g.73799456T>C , CM000664.1:g.73799456T>C	GRCh37
NC_000002.10:g.73652964T>C	NCBI36
NG_011690.1:g.191577T>C , LRG_741:g.191577T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10071T>C	ENSP00000507671.1:p.Ile3357=
ENST00000682801.1:c.10071T>C	ENSP00000507862.1:p.Ile3357=
ENST00000682859.1:c.10071T>C	ENSP00000508222.1:p.Ile3357=
ENST00000683791.1:c.3157T>C
ENST00000684460.1:c.7352T>C
ENST00000684548.1:c.10071T>C	ENSP00000507421.1:p.Ile3357=
ENST00000684590.1:c.4518T>C	ENSP00000507376.1:p.Ile1506=
ENST00000684656.1:c.7397T>C
ENST00000613296.6:c.10452T>C MANE Select	ENSP00000482968.1:p.Ile3484=
ENST00000651057.1:c.606T>C	ENSP00000498504.1:p.Ile202=
ENST00000651434.1:c.1808T>C
ENST00000652487.1:c.1549T>C
ENST00000423048.5:c.3943T>C	ENSP00000399833.1:n.3943T>C
ENST00000484298.5:c.10326T>C	ENSP00000478155.1:p.Ile3442=
ENST00000613296.4:c.10452T>C	ENSP00000482968.1:p.Ile3484=
ENST00000614410.4:c.10452T>C	ENSP00000479094.1:p.Ile3484=
ENST00000620466.4:n.4255T>C
NM_015120.4:c.10455T>C , LRG_741t1:c.10455T>C	NP_055935.4:p.Ile3485=
NM_001378454.1:c.10452T>C MANE Select	NP_001365383.1:p.Ile3484=