Canonical Allele Identifier: CA426783481

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828335T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601208T>C , CM000664.2:g.73601208T>C	GRCh38
NC_000002.11:g.73828335T>C , CM000664.1:g.73828335T>C	GRCh37
NC_000002.10:g.73681843T>C	NCBI36
NG_011690.1:g.220456T>C , LRG_741:g.220456T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11505T>C	ENSP00000507671.1:p.Phe3835=
ENST00000682801.1:c.11167-977T>C	ENSP00000507862.1:n.11167-977T>C
ENST00000682859.1:c.11505T>C	ENSP00000508222.1:p.Phe3835=
ENST00000683791.1:c.4591T>C
ENST00000684460.1:c.8786T>C
ENST00000684548.1:c.11505T>C	ENSP00000507421.1:p.Phe3835=
ENST00000684590.1:c.5952T>C	ENSP00000507376.1:p.Phe1984=
ENST00000684656.1:c.8970T>C
ENST00000613296.6:c.11886T>C MANE Select	ENSP00000482968.1:p.Phe3962=
ENST00000651057.1:c.2040T>C	ENSP00000498504.1:p.Phe680=
ENST00000651434.1:c.3242T>C
ENST00000651750.1:c.1260+327T>C
ENST00000652487.1:c.3057T>C
ENST00000464408.3:n.61T>C
ENST00000484298.5:c.11760T>C	ENSP00000478155.1:p.Phe3920=
ENST00000613296.4:c.11886T>C	ENSP00000482968.1:p.Phe3962=
ENST00000620466.4:n.5689T>C
NM_015120.4:c.11889T>C , LRG_741t1:c.11889T>C	NP_055935.4:p.Phe3963=
NM_001378454.1:c.11886T>C MANE Select	NP_001365383.1:p.Phe3962=