Canonical Allele Identifier: CA371418590

Gene: CA1

Linked Data

• MyVariant Identifiers: chr8:g.86240835C>G (hg19) ; chr8:g.85328606C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85328606C>G , CM000670.2:g.85328606C>G	GRCh38
NC_000008.10:g.86240835C>G , CM000670.1:g.86240835C>G	GRCh37
NC_000008.9:g.86428087C>G	NCBI36
NG_016221.1:g.54508G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523022.6:c.740G>C MANE Select	ENSP00000429798.1:p.Arg247Pro
ENST00000431316.3:c.740G>C	ENSP00000392338.1:p.Arg247Pro
ENST00000517618.5:c.740G>C	ENSP00000430861.1:p.Arg247Pro
ENST00000519991.5:c.401G>C	ENSP00000430543.1:p.Arg134Pro
ENST00000521679.5:c.489G>C
ENST00000522389.5:c.338G>C	ENSP00000427773.1:p.Arg113Pro
ENST00000523022.5:c.740G>C	ENSP00000429798.1:p.Arg247Pro
ENST00000523953.5:c.740G>C	ENSP00000430656.1:p.Arg247Pro
ENST00000524324.5:c.542G>C	ENSP00000428923.1:p.Arg181Pro
ENST00000542576.5:c.740G>C	ENSP00000443517.1:p.Arg247Pro
ENST00000626824.1:c.338G>C	ENSP00000486171.1:p.Arg113Pro
NM_001128829.3:c.740G>C	NP_001122301.1:p.Arg247Pro
NM_001128830.3:c.740G>C	NP_001122302.1:p.Arg247Pro
NM_001128831.3:c.740G>C	NP_001122303.1:p.Arg247Pro
NM_001164830.1:c.740G>C	NP_001158302.1:p.Arg247Pro
NM_001291967.1:c.542G>C	NP_001278896.1:p.Arg181Pro
NM_001291968.1:c.401G>C	NP_001278897.1:p.Arg134Pro
NM_001738.4:c.740G>C	NP_001729.1:p.Arg247Pro
XM_011517584.1:c.740G>C	XP_011515886.1:p.Arg247Pro
NM_001128829.4:c.740G>C	NP_001122301.1:p.Arg247Pro
NM_001128830.4:c.740G>C	NP_001122302.1:p.Arg247Pro
NM_001128831.4:c.740G>C MANE Select	NP_001122303.1:p.Arg247Pro
NM_001164830.2:c.740G>C	NP_001158302.1:p.Arg247Pro
NM_001291967.2:c.542G>C	NP_001278896.1:p.Arg181Pro
NM_001291968.2:c.401G>C	NP_001278897.1:p.Arg134Pro
NM_001738.5:c.740G>C	NP_001729.1:p.Arg247Pro