Canonical Allele Identifier: CA347267771

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717265T>C (hg19) ; chr2:g.73490138T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490138T>C , CM000664.2:g.73490138T>C	GRCh38
NC_000002.11:g.73717265T>C , CM000664.1:g.73717265T>C	GRCh37
NC_000002.10:g.73570773T>C	NCBI36
NG_011690.1:g.109386T>C , LRG_741:g.109386T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7798T>C	ENSP00000507671.1:p.Ser2600Pro
ENST00000682801.1:c.7798T>C	ENSP00000507862.1:p.Ser2600Pro
ENST00000682859.1:c.7798T>C	ENSP00000508222.1:p.Ser2600Pro
ENST00000683791.1:c.1190T>C
ENST00000684460.1:c.5250T>C
ENST00000684548.1:c.7798T>C	ENSP00000507421.1:p.Ser2600Pro
ENST00000684590.1:c.2245T>C	ENSP00000507376.1:p.Ser749Pro
ENST00000684656.1:c.5250T>C
ENST00000613296.6:c.8179T>C MANE Select	ENSP00000482968.1:p.Ser2727Pro
ENST00000651434.1:c.896-29637T>C
ENST00000423048.5:c.3010T>C	ENSP00000399833.1:p.Ser1004Pro
ENST00000484298.5:c.8053T>C	ENSP00000478155.1:p.Ser2685Pro
ENST00000613296.4:c.8179T>C	ENSP00000482968.1:p.Ser2727Pro
ENST00000614410.4:c.8179T>C	ENSP00000479094.1:p.Ser2727Pro
ENST00000620466.4:n.1982T>C
NM_015120.4:c.8182T>C , LRG_741t1:c.8182T>C	NP_055935.4:p.Ser2728Pro
NM_001378454.1:c.8179T>C MANE Select	NP_001365383.1:p.Ser2727Pro