Canonical Allele Identifier: CA224144439

Gene: CABP4

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67458411T>C , CM000673.2:g.67458411T>C	GRCh38
NC_000011.9:g.67225882T>C , CM000673.1:g.67225882T>C	GRCh37
NC_000011.8:g.66982458T>C	NCBI36
NG_021211.1:g.8065T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_145200.5:c.692T>C MANE Select	NP_660201.1:p.Leu231Pro
ENST00000325656.7:c.692T>C MANE Select	ENSP00000324960.5:p.Leu231Pro
NM_001300895.1:c.377T>C	NP_001287824.1:p.Leu126Pro
NM_001300895.2:c.377T>C	NP_001287824.1:p.Leu126Pro
NM_001300895.3:c.377T>C	NP_001287824.1:p.Leu126Pro
NM_001300896.1:c.377T>C	NP_001287825.1:p.Leu126Pro
NM_001300896.2:c.377T>C	NP_001287825.1:p.Leu126Pro
NM_001300896.3:c.377T>C	NP_001287825.1:p.Leu126Pro
NM_001379183.1:c.377T>C	NP_001366112.1:p.Leu126Pro
NM_145200.3:c.692T>C	NP_660201.1:p.Leu231Pro
NM_145200.4:c.692T>C	NP_660201.1:p.Leu231Pro
NR_166529.1:n.587T>C
ENST00000325656.6:c.692T>C	ENSP00000324960.5:p.Leu231Pro
ENST00000438189.6:c.377T>C	ENSP00000401555.2:p.Leu126Pro
XM_011545181.1:c.752T>C	XP_011543483.1:p.Leu251Pro
XM_011545181.2:c.752T>C	XP_011543483.1:p.Leu251Pro
XM_011545182.1:c.608T>C	XP_011543484.1:p.Leu203Pro
XM_011545182.2:c.608T>C	XP_011543484.1:p.Leu203Pro
XM_011545183.1:c.377T>C	XP_011543485.1:p.Leu126Pro
XM_011545183.2:c.377T>C	XP_011543485.1:p.Leu126Pro
XM_011545184.1:c.377T>C	XP_011543486.1:p.Leu126Pro
XM_017018025.1:c.377T>C	XP_016873514.1:p.Leu126Pro
XM_024448615.1:c.692T>C	XP_024304383.1:p.Leu231Pro
XM_024448616.1:c.377T>C	XP_024304384.1:p.Leu126Pro