Canonical Allele Identifier: CA3805249

Gene: GUCA1ANB-GUCA1A GUCA1A CIMIP3

Linked Data

• ClinVar Variation Id: 1463192
• ClinVar RCV Id: RCV001960928
• dbSNP Id: rs778379606
• ExAC: 6:42141400 G / T
• gnomAD v2: 6-42141400-G-T
• gnomAD v3: 6-42173662-G-T
• gnomAD v4: 6-42173662-G-T
• COSMIC: COSM1728145
• MyVariant Identifiers: chr6:g.42141400G>T (hg19) ; chr6:g.42173662G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42173662G>T , CM000668.2:g.42173662G>T	GRCh38
NC_000006.11:g.42141400G>T , CM000668.1:g.42141400G>T	GRCh37
NC_000006.10:g.42249378G>T	NCBI36
NG_009938.1:g.23257G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703265.1:c.*284G>T (GUCA1ANB-GUCA1A)	ENSP00000515250.1:n.*284G>T
ENST00000703266.1:c.*284G>T (GUCA1ANB-GUCA1A)	ENSP00000515251.1:n.*284G>T
ENST00000703267.1:c.*547G>T (GUCA1ANB-GUCA1A)	ENSP00000515252.1:n.*547G>T
ENST00000372958.2:c.49G>T (GUCA1A) MANE Select	ENSP00000362049.1:p.Glu17Ter
ENST00000394237.6:c.*547G>T (CIMIP3)	ENSP00000377784.2:n.*547G>T
ENST00000418175.6:c.*284G>T (CIMIP3)	ENSP00000388438.2:n.*284G>T
ENST00000654459.1:c.49G>T (GUCA1A)	ENSP00000499539.1:p.Glu17Ter
ENST00000659095.1:c.*284G>T (CIMIP3)	ENSP00000499714.1:n.*284G>T
ENST00000053469.8:c.49G>T (GUCA1A)	ENSP00000053469.4:p.Glu17Ter
ENST00000372958.1:c.49G>T (GUCA1A)	ENSP00000362049.1:p.Glu17Ter
ENST00000394237.5:c.49G>T (GUCA1A)	ENSP00000377784.1:p.Glu17Ter
ENST00000418175.5:c.49G>T (GUCA1A)	ENSP00000388438.1:p.Glu17Ter
ENST00000541991.5:c.37G>T (GUCA1A)	ENSP00000437476.2:p.Glu13Ter
NM_000409.3:c.49G>T (GUCA1A)	NP_000400.2:p.Glu17Ter
XM_011514536.1:c.49G>T (GUCA1A)	XP_011512838.1:p.Glu17Ter
XM_011514537.1:c.49G>T (GUCA1A)	XP_011512839.1:p.Glu17Ter
XM_011514538.1:c.49G>T (GUCA1A)	XP_011512840.1:p.Glu17Ter
XM_011514539.1:c.49G>T (GUCA1A)	XP_011512841.1:p.Glu17Ter
NM_000409.4:c.49G>T (GUCA1A)	NP_000400.2:p.Glu17Ter
NM_001319061.1:c.49G>T (GUCA1A)	NP_001305990.1:p.Glu17Ter
NM_001319062.1:c.49G>T (GUCA1A)	NP_001305991.1:p.Glu17Ter
XM_011514537.2:c.49G>T (GUCA1A)	XP_011512839.1:p.Glu17Ter
NM_000409.5:c.49G>T (GUCA1A)	NP_000400.2:p.Glu17Ter
NM_001319061.2:c.49G>T (GUCA1A)	NP_001305990.1:p.Glu17Ter
NM_001319062.2:c.49G>T (GUCA1A)	NP_001305991.1:p.Glu17Ter
NM_001384910.1:c.49G>T (GUCA1A) MANE Select	NP_001371839.1:p.Glu17Ter