Canonical Allele Identifier: CA347286386

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799952A>T (hg19) ; chr2:g.73572825A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572825A>T , CM000664.2:g.73572825A>T	GRCh38
NC_000002.11:g.73799952A>T , CM000664.1:g.73799952A>T	GRCh37
NC_000002.10:g.73653460A>T	NCBI36
NG_011690.1:g.192073A>T , LRG_741:g.192073A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10567A>T	ENSP00000507671.1:p.Thr3523Ser
ENST00000682801.1:c.10567A>T	ENSP00000507862.1:p.Thr3523Ser
ENST00000682859.1:c.10567A>T	ENSP00000508222.1:p.Thr3523Ser
ENST00000683791.1:c.3653A>T
ENST00000684460.1:c.7848A>T
ENST00000684548.1:c.10567A>T	ENSP00000507421.1:p.Thr3523Ser
ENST00000684590.1:c.5014A>T	ENSP00000507376.1:p.Thr1672Ser
ENST00000684656.1:c.7893A>T
ENST00000613296.6:c.10948A>T MANE Select	ENSP00000482968.1:p.Thr3650Ser
ENST00000651057.1:c.1102A>T	ENSP00000498504.1:p.Thr368Ser
ENST00000651434.1:c.2304A>T
ENST00000651750.1:c.336A>T
ENST00000652487.1:c.2045A>T
ENST00000423048.5:c.4439A>T	ENSP00000399833.1:n.4439A>T
ENST00000484298.5:c.10822A>T	ENSP00000478155.1:p.Thr3608Ser
ENST00000613296.4:c.10948A>T	ENSP00000482968.1:p.Thr3650Ser
ENST00000614410.4:c.10948A>T	ENSP00000479094.1:p.Thr3650Ser
ENST00000620466.4:n.4751A>T
NM_015120.4:c.10951A>T , LRG_741t1:c.10951A>T	NP_055935.4:p.Thr3651Ser
NM_001378454.1:c.10948A>T MANE Select	NP_001365383.1:p.Thr3650Ser