Canonical Allele Identifier: CA380202607

Gene: SLC35C1

Linked Data

• ClinVar Variation Id: 1345882
• ClinVar RCV Id: RCV002037619
• dbSNP Id: rs2134590175
• MyVariant Identifiers: chr11:g.45827612T>C (hg19) ; chr11:g.45806061T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45806061T>C , CM000673.2:g.45806061T>C	GRCh38
NC_000011.9:g.45827612T>C , CM000673.1:g.45827612T>C	GRCh37
NC_000011.8:g.45784188T>C	NCBI36
NG_009875.1:g.6990T>C , LRG_107:g.6990T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.221T>C	ENSP00000432145.2:p.Leu74Pro
ENST00000314134.4:c.260T>C MANE Select	ENSP00000313318.3:p.Leu87Pro
ENST00000314134.3:c.260T>C	ENSP00000313318.3:p.Leu87Pro
ENST00000442528.2:c.221T>C	ENSP00000412408.2:p.Leu74Pro
ENST00000530471.1:c.221T>C	ENSP00000432669.1:p.Leu74Pro
NM_001145265.1:c.221T>C	NP_001138737.1:p.Leu74Pro
NM_001145266.1:c.221T>C	NP_001138738.1:p.Leu74Pro
NM_018389.4:c.260T>C , LRG_107t1:c.260T>C	NP_060859.4:p.Leu87Pro
XM_011520203.1:c.260T>C	XP_011518505.1:p.Leu87Pro
XM_011520203.3:c.260T>C	XP_011518505.1:p.Leu87Pro
NM_001145265.2:c.221T>C	NP_001138737.1:p.Leu74Pro
NM_018389.5:c.260T>C MANE Select	NP_060859.4:p.Leu87Pro