Canonical Allele Identifier: CA12175590

Gene: ERGIC1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.172844004A>G , CM000667.2:g.172844004A>G	GRCh38
NC_000005.9:g.172271007A>G , CM000667.1:g.172271007A>G	GRCh37
NC_000005.8:g.172203613A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326654.7:c.20+9571A>G	ENSP00000325127.3:n.20+9571A>G
ENST00000520326.6:n.80+9571A>G
ENST00000684928.1:c.20+9571A>G	ENSP00000510698.1:n.20+9571A>G
ENST00000685391.1:c.20+9571A>G	ENSP00000509294.1:n.20+9571A>G
ENST00000686615.1:c.20+9571A>G	ENSP00000509559.1:n.20+9571A>G
ENST00000686955.1:c.20+9571A>G	ENSP00000509772.1:n.20+9571A>G
ENST00000687702.1:c.20+9571A>G	ENSP00000508714.1:n.20+9571A>G
ENST00000687901.1:c.-478+9571A>G	ENSP00000509817.1:n.-478+9571A>G
ENST00000689975.1:c.20+9571A>G	ENSP00000509397.1:n.20+9571A>G
ENST00000689977.1:n.31+9571A>G
ENST00000690799.1:c.20+9571A>G	ENSP00000510667.1:n.20+9571A>G
ENST00000691612.1:c.20+9571A>G	ENSP00000509840.1:n.20+9571A>G
ENST00000692557.1:n.70+8118A>G
ENST00000693299.1:c.-560-9122A>G	ENSP00000509429.1:n.-560-9122A>G
ENST00000393784.8:c.20+9571A>G MANE Select	ENSP00000377374.3:n.20+9571A>G
ENST00000393784.7:c.20+9571A>G	ENSP00000377374.3:n.20+9571A>G
ENST00000519860.3:n.115+9571A>G
ENST00000520326.5:n.99+9571A>G
ENST00000520642.5:c.20+9571A>G	ENSP00000428064.1:n.20+9571A>G
ENST00000523291.5:c.20+9571A>G	ENSP00000427713.1:n.20+9571A>G
NM_001031711.2:c.20+9571A>G	NP_001026881.1:n.20+9571A>G
XM_011534598.1:c.20+9571A>G	XP_011532900.1:n.20+9571A>G
XM_011534598.3:c.20+9571A>G	XP_011532900.1:n.20+9571A>G
XM_024446135.1:c.-162+9571A>G	XP_024301903.1:n.-162+9571A>G
XR_001742159.2:n.47+9571A>G
NM_001031711.3:c.20+9571A>G MANE Select	NP_001026881.1:n.20+9571A>G