Canonical Allele Identifier: CA306099183
Gene: SLC27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17479472G>C , CM000681.2:g.17479472G>C GRCh38
NC_000019.9:g.17590281G>C , CM000681.1:g.17590281G>C GRCh37
NC_000019.8:g.17451281G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_198580.3:c.168-7091G>C MANE Select NP_940982.1:n.168-7091G>C
ENST00000252595.12:c.168-7091G>C MANE Select ENSP00000252595.6:n.168-7091G>C
NM_198580.2:c.168-7091G>C NP_940982.1:n.168-7091G>C
ENST00000252595.11:c.168-7091G>C ENSP00000252595.6:n.168-7091G>C
ENST00000598424.5:c.-684-4410G>C ENSP00000472313.1:n.-684-4410G>C
ENST00000599380.5:c.168-7988G>C ENSP00000469459.1:n.168-7988G>C
ENST00000600277.5:c.168-7091G>C ENSP00000472082.1:n.168-7091G>C
ENST00000600297.1:c.168-7091G>C ENSP00000469881.1:n.168-7091G>C
XM_011528000.1:c.168-7091G>C XP_011526302.1:n.168-7091G>C
XM_011528001.1:c.168-7091G>C XP_011526303.1:n.168-7091G>C
XM_011528001.2:c.168-7091G>C XP_011526303.1:n.168-7091G>C
XM_011528002.1:c.168-7091G>C XP_011526304.1:n.168-7091G>C
XM_011528002.2:c.168-7091G>C XP_011526304.1:n.168-7091G>C
XM_011528003.1:c.168-7091G>C XP_011526305.1:n.168-7091G>C
XM_011528003.2:c.168-7091G>C XP_011526305.1:n.168-7091G>C
XM_017026781.1:c.168-7091G>C XP_016882270.1:n.168-7091G>C
XR_001753680.1:n.205-7091G>C
XR_001753681.1:n.205-7091G>C
XR_936176.1:n.406-7091G>C
XR_936177.1:n.406-7091G>C