Canonical Allele Identifier: CA713520777

Gene: GABPB1

Linked Data

• dbSNP Id: rs1337374661
• gnomAD v3: 15-50329634-T-C
• gnomAD v4: 15-50329634-T-C
• MyVariant Identifiers: chr15:g.50621831T>C (hg19) ; chr15:g.50329634T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50329634T>C , CM000677.2:g.50329634T>C	GRCh38
NC_000015.9:g.50621831T>C , CM000677.1:g.50621831T>C	GRCh37
NC_000015.8:g.48409123T>C	NCBI36
NG_029475.1:g.30775A>G
NG_029475.2:g.30775A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380877.8:c.1-19836A>G MANE Select	ENSP00000370259.3:n.1-19836A>G
ENST00000220429.12:c.1-19836A>G	ENSP00000220429.8:n.1-19836A>G
ENST00000359031.8:c.-1+16738A>G	ENSP00000351923.4:n.-1+16738A>G
ENST00000380877.7:c.1-19836A>G	ENSP00000370259.3:n.1-19836A>G
ENST00000396464.7:c.1-19836A>G	ENSP00000379728.3:n.1-19836A>G
ENST00000429662.6:c.1-19836A>G	ENSP00000395771.2:n.1-19836A>G
ENST00000543881.5:c.-121+25351A>G	ENSP00000442500.1:n.-121+25351A>G
ENST00000558970.2:c.-255-14964A>G	ENSP00000454211.1:n.-255-14964A>G
ENST00000560825.5:c.-1+16738A>G	ENSP00000453463.1:n.-1+16738A>G
NM_002041.4:c.1-19836A>G	NP_002032.2:n.1-19836A>G
NM_005254.5:c.1-19836A>G	NP_005245.2:n.1-19836A>G
NM_016654.4:c.1-19836A>G	NP_057738.1:n.1-19836A>G
NM_016655.4:c.1-19836A>G	NP_057739.1:n.1-19836A>G
NM_181427.3:c.-1+16738A>G	NP_852092.1:n.-1+16738A>G
XM_005254273.3:c.-1+16738A>G	XP_005254330.1:n.-1+16738A>G
NM_001320910.1:c.-1+16738A>G	NP_001307839.1:n.-1+16738A>G
NM_001320915.1:c.-1+16738A>G	NP_001307844.1:n.-1+16738A>G
XM_011521426.3:c.1-19836A>G	XP_011519728.1:n.1-19836A>G
XM_017022053.2:c.-1+16738A>G	XP_016877542.1:n.-1+16738A>G
XM_017022054.2:c.-1+16738A>G	XP_016877543.1:n.-1+16738A>G
XM_024449883.1:c.15+10869A>G	XP_024305651.1:n.15+10869A>G
XM_024449884.1:c.15+10869A>G	XP_024305652.1:n.15+10869A>G
XM_024449885.1:c.-60-2197A>G	XP_024305653.1:n.-60-2197A>G
XM_024449886.1:c.1-19836A>G	XP_024305654.1:n.1-19836A>G
XM_024449887.1:c.15+10869A>G	XP_024305655.1:n.15+10869A>G
XM_024449888.1:c.15+10869A>G	XP_024305656.1:n.15+10869A>G
NM_001320910.2:c.-1+16738A>G	NP_001307839.1:n.-1+16738A>G
NM_001320915.2:c.-1+16738A>G	NP_001307844.1:n.-1+16738A>G
NM_005254.6:c.1-19836A>G	NP_005245.2:n.1-19836A>G
NM_016654.5:c.1-19836A>G MANE Select	NP_057738.1:n.1-19836A>G
NM_002041.5:c.1-19836A>G	NP_002032.2:n.1-19836A>G
NM_016655.5:c.1-19836A>G	NP_057739.1:n.1-19836A>G
NM_181427.4:c.-1+16738A>G	NP_852092.1:n.-1+16738A>G