Canonical Allele Identifier: CA371418361

Gene: CA1

Linked Data

• MyVariant Identifiers: chr8:g.86240790C>G (hg19) ; chr8:g.85328561C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85328561C>G , CM000670.2:g.85328561C>G	GRCh38
NC_000008.10:g.86240790C>G , CM000670.1:g.86240790C>G	GRCh37
NC_000008.9:g.86428042C>G	NCBI36
NG_016221.1:g.54553G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523022.6:c.785G>C MANE Select	ENSP00000429798.1:p.Ter262Ser
ENST00000431316.3:c.785G>C	ENSP00000392338.1:p.Ter262Ser
ENST00000521679.5:c.534G>C
ENST00000522389.5:c.383G>C	ENSP00000427773.1:p.Ter128Ser
ENST00000523022.5:c.785G>C	ENSP00000429798.1:p.Ter262Ser
ENST00000523953.5:c.785G>C	ENSP00000430656.1:p.Ter262Ser
ENST00000542576.5:c.785G>C	ENSP00000443517.1:p.Ter262Ser
ENST00000626824.1:c.383G>C	ENSP00000486171.1:p.Ter128Ser
NM_001128829.3:c.785G>C	NP_001122301.1:p.Ter262Ser
NM_001128830.3:c.785G>C	NP_001122302.1:p.Ter262Ser
NM_001128831.3:c.785G>C	NP_001122303.1:p.Ter262Ser
NM_001164830.1:c.785G>C	NP_001158302.1:p.Ter262Ser
NM_001291967.1:c.587G>C	NP_001278896.1:p.Ter196Ser
NM_001291968.1:c.446G>C	NP_001278897.1:p.Ter149Ser
NM_001738.4:c.785G>C	NP_001729.1:p.Ter262Ser
XM_011517584.1:c.785G>C	XP_011515886.1:p.Ter262Ser
NM_001128829.4:c.785G>C	NP_001122301.1:p.Ter262Ser
NM_001128830.4:c.785G>C	NP_001122302.1:p.Ter262Ser
NM_001128831.4:c.785G>C MANE Select	NP_001122303.1:p.Ter262Ser
NM_001164830.2:c.785G>C	NP_001158302.1:p.Ter262Ser
NM_001291967.2:c.587G>C	NP_001278896.1:p.Ter196Ser
NM_001291968.2:c.446G>C	NP_001278897.1:p.Ter149Ser
NM_001738.5:c.785G>C	NP_001729.1:p.Ter262Ser