Canonical Allele Identifier: CA497555219

Linked Data

gnomAD v4: 17-5002550-C-G
MyVariant Identifiers: chr17:g.4905845C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5002550C>G , CM000679.2:g.5002550C>G GRCh38
NC_000017.10:g.4905845C>G , CM000679.1:g.4905845C>G GRCh37
NC_000017.9:g.4846569C>G NCBI36
NG_034137.1:g.9603C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320785.10:c.516C>G (KIF1C) MANE Select ENSP00000320821.5:p.Pro172=
ENST00000320785.9:c.516C>G (KIF1C) ENSP00000320821.5:p.Pro172=
NM_006612.5:c.516C>G (KIF1C) NP_006603.2:p.Pro172=
XM_005256424.1:c.516C>G (KIF1C) XP_005256481.1:p.Pro172=
XM_005256424.2:c.516C>G (KIF1C) XP_005256481.1:p.Pro172=
XM_024450745.1:c.-39+3532G>C (INCA1) XP_024306513.1:n.-39+3532G>C
NM_006612.6:c.516C>G (KIF1C) MANE Select NP_006603.2:p.Pro172=