Canonical Allele Identifier: CA3805422

Gene: GUCA1ANB-GUCA1A GUCA1A CIMIP3

Linked Data

• dbSNP Id: rs121434631
• ExAC: 6:42146986 C / G
• gnomAD v2: 6-42146986-C-G
• gnomAD v3: 6-42179248-C-G
• gnomAD v4: 6-42179248-C-G
• MyVariant Identifiers: chr6:g.42146986C>G (hg19) ; chr6:g.42179248C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42179248C>G , CM000668.2:g.42179248C>G	GRCh38
NC_000006.11:g.42146986C>G , CM000668.1:g.42146986C>G	GRCh37
NC_000006.10:g.42254964C>G	NCBI36
NG_009938.1:g.28843C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703266.1:c.*686C>G (GUCA1ANB-GUCA1A)	ENSP00000515251.1:n.*686C>G
ENST00000703267.1:c.*949C>G (GUCA1ANB-GUCA1A)	ENSP00000515252.1:n.*949C>G
ENST00000372958.2:c.451C>G (GUCA1A) MANE Select	ENSP00000362049.1:p.Leu151Val
ENST00000394237.6:c.*949C>G (CIMIP3)	ENSP00000377784.2:n.*949C>G
ENST00000654459.1:c.451C>G (GUCA1A)	ENSP00000499539.1:p.Leu151Val
ENST00000659095.1:c.*686C>G (CIMIP3)	ENSP00000499714.1:n.*686C>G
ENST00000679182.1:c.232C>G (GUCA1A)	ENSP00000504837.1:p.Leu78Val
ENST00000053469.8:c.451C>G (GUCA1A)	ENSP00000053469.4:p.Leu151Val
ENST00000372958.1:c.451C>G (GUCA1A)	ENSP00000362049.1:p.Leu151Val
ENST00000394237.5:c.451C>G (GUCA1A)	ENSP00000377784.1:p.Leu151Val
ENST00000541991.5:c.463C>G (GUCA1A)	ENSP00000437476.2:p.Leu155Val
NM_000409.3:c.451C>G (GUCA1A)	NP_000400.2:p.Leu151Val
XM_006715073.2:c.232C>G (GUCA1A)	XP_006715136.1:p.Leu78Val
XM_011514536.1:c.451C>G (GUCA1A)	XP_011512838.1:p.Leu151Val
XM_011514537.1:c.451C>G (GUCA1A)	XP_011512839.1:p.Leu151Val
XM_011514538.1:c.451C>G (GUCA1A)	XP_011512840.1:p.Leu151Val
XM_011514539.1:c.451C>G (GUCA1A)	XP_011512841.1:p.Leu151Val
NM_000409.4:c.451C>G (GUCA1A)	NP_000400.2:p.Leu151Val
NM_001319061.1:c.451C>G (GUCA1A)	NP_001305990.1:p.Leu151Val
NM_001319062.1:c.451C>G (GUCA1A)	NP_001305991.1:p.Leu151Val
XM_006715073.3:c.232C>G (GUCA1A)	XP_006715136.1:p.Leu78Val
XM_011514537.2:c.451C>G (GUCA1A)	XP_011512839.1:p.Leu151Val
NM_000409.5:c.451C>G (GUCA1A)	NP_000400.2:p.Leu151Val
NM_001319061.2:c.451C>G (GUCA1A)	NP_001305990.1:p.Leu151Val
NM_001319062.2:c.451C>G (GUCA1A)	NP_001305991.1:p.Leu151Val
NM_001384910.1:c.451C>G (GUCA1A) MANE Select	NP_001371839.1:p.Leu151Val