Canonical Allele Identifier: CA347282802

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799434T>C (hg19) ; chr2:g.73572307T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572307T>C , CM000664.2:g.73572307T>C	GRCh38
NC_000002.11:g.73799434T>C , CM000664.1:g.73799434T>C	GRCh37
NC_000002.10:g.73652942T>C	NCBI36
NG_011690.1:g.191555T>C , LRG_741:g.191555T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10049T>C	ENSP00000507671.1:p.Phe3350Ser
ENST00000682801.1:c.10049T>C	ENSP00000507862.1:p.Phe3350Ser
ENST00000682859.1:c.10049T>C	ENSP00000508222.1:p.Phe3350Ser
ENST00000683791.1:c.3135T>C
ENST00000684460.1:c.7330T>C
ENST00000684548.1:c.10049T>C	ENSP00000507421.1:p.Phe3350Ser
ENST00000684590.1:c.4496T>C	ENSP00000507376.1:p.Phe1499Ser
ENST00000684656.1:c.7375T>C
ENST00000613296.6:c.10430T>C MANE Select	ENSP00000482968.1:p.Phe3477Ser
ENST00000651057.1:c.584T>C	ENSP00000498504.1:p.Phe195Ser
ENST00000651434.1:c.1786T>C
ENST00000652487.1:c.1527T>C
ENST00000423048.5:c.3921T>C	ENSP00000399833.1:n.3921T>C
ENST00000484298.5:c.10304T>C	ENSP00000478155.1:p.Phe3435Ser
ENST00000613296.4:c.10430T>C	ENSP00000482968.1:p.Phe3477Ser
ENST00000614410.4:c.10430T>C	ENSP00000479094.1:p.Phe3477Ser
ENST00000620466.4:n.4233T>C
NM_015120.4:c.10433T>C , LRG_741t1:c.10433T>C	NP_055935.4:p.Phe3478Ser
NM_001378454.1:c.10430T>C MANE Select	NP_001365383.1:p.Phe3477Ser