Canonical Allele Identifier: CA427024162

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572563-T-C
• MyVariant Identifiers: chr2:g.73799690T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572563T>C , CM000664.2:g.73572563T>C	GRCh38
NC_000002.11:g.73799690T>C , CM000664.1:g.73799690T>C	GRCh37
NC_000002.10:g.73653198T>C	NCBI36
NG_011690.1:g.191811T>C , LRG_741:g.191811T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10305T>C	ENSP00000507671.1:p.Thr3435=
ENST00000682801.1:c.10305T>C	ENSP00000507862.1:p.Thr3435=
ENST00000682859.1:c.10305T>C	ENSP00000508222.1:p.Thr3435=
ENST00000683791.1:c.3391T>C
ENST00000684460.1:c.7586T>C
ENST00000684548.1:c.10305T>C	ENSP00000507421.1:p.Thr3435=
ENST00000684590.1:c.4752T>C	ENSP00000507376.1:p.Thr1584=
ENST00000684656.1:c.7631T>C
ENST00000613296.6:c.10686T>C MANE Select	ENSP00000482968.1:p.Thr3562=
ENST00000651057.1:c.840T>C	ENSP00000498504.1:p.Thr280=
ENST00000651434.1:c.2042T>C
ENST00000651750.1:c.74T>C
ENST00000652487.1:c.1783T>C
ENST00000423048.5:c.4177T>C	ENSP00000399833.1:n.4177T>C
ENST00000484298.5:c.10560T>C	ENSP00000478155.1:p.Thr3520=
ENST00000613296.4:c.10686T>C	ENSP00000482968.1:p.Thr3562=
ENST00000614410.4:c.10686T>C	ENSP00000479094.1:p.Thr3562=
ENST00000620466.4:n.4489T>C
NM_015120.4:c.10689T>C , LRG_741t1:c.10689T>C	NP_055935.4:p.Thr3563=
NM_001378454.1:c.10686T>C MANE Select	NP_001365383.1:p.Thr3562=