Canonical Allele Identifier: CA347284261

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799628T>C (hg19) ; chr2:g.73572501T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572501T>C , CM000664.2:g.73572501T>C	GRCh38
NC_000002.11:g.73799628T>C , CM000664.1:g.73799628T>C	GRCh37
NC_000002.10:g.73653136T>C	NCBI36
NG_011690.1:g.191749T>C , LRG_741:g.191749T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10243T>C	ENSP00000507671.1:p.Tyr3415His
ENST00000682801.1:c.10243T>C	ENSP00000507862.1:p.Tyr3415His
ENST00000682859.1:c.10243T>C	ENSP00000508222.1:p.Tyr3415His
ENST00000683791.1:c.3329T>C
ENST00000684460.1:c.7524T>C
ENST00000684548.1:c.10243T>C	ENSP00000507421.1:p.Tyr3415His
ENST00000684590.1:c.4690T>C	ENSP00000507376.1:p.Tyr1564His
ENST00000684656.1:c.7569T>C
ENST00000613296.6:c.10624T>C MANE Select	ENSP00000482968.1:p.Tyr3542His
ENST00000651057.1:c.778T>C	ENSP00000498504.1:p.Tyr260His
ENST00000651434.1:c.1980T>C
ENST00000651750.1:c.12T>C
ENST00000652487.1:c.1721T>C
ENST00000423048.5:c.4115T>C	ENSP00000399833.1:n.4115T>C
ENST00000484298.5:c.10498T>C	ENSP00000478155.1:p.Tyr3500His
ENST00000613296.4:c.10624T>C	ENSP00000482968.1:p.Tyr3542His
ENST00000614410.4:c.10624T>C	ENSP00000479094.1:p.Tyr3542His
ENST00000620466.4:n.4427T>C
NM_015120.4:c.10627T>C , LRG_741t1:c.10627T>C	NP_055935.4:p.Tyr3543His
NM_001378454.1:c.10624T>C MANE Select	NP_001365383.1:p.Tyr3542His