Canonical Allele Identifier: CA2581646782
Community Standard Title: NM_004930.5(CAPZB):c.94-6704C>A
Gene: CAPZB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.19392330G>T , CM000663.2:g.19392330G>T GRCh38
NC_000001.10:g.19718824G>T , CM000663.1:g.19718824G>T GRCh37
NC_000001.9:g.19591411G>T NCBI36
NG_029551.1:g.98243C>A
NG_029551.2:g.98243C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004930.5:c.94-6704C>A MANE Select NP_004921.1:n.94-6704C>A
ENST00000264202.8:c.94-6704C>A MANE Select ENSP00000264202.7:n.94-6704C>A
NM_001206540.2:c.94-6704C>A NP_001193469.1:n.94-6704C>A
NM_001206540.3:c.94-6704C>A NP_001193469.1:n.94-6704C>A
NM_001206541.2:c.172-6704C>A NP_001193470.1:n.172-6704C>A
NM_001206541.3:c.172-6704C>A NP_001193470.1:n.172-6704C>A
NM_001282162.1:c.181-6704C>A NP_001269091.1:n.181-6704C>A
NM_001282162.2:c.181-6704C>A NP_001269091.1:n.181-6704C>A
NM_001313932.1:c.94-6704C>A NP_001300861.1:n.94-6704C>A
NM_001313932.2:c.94-6704C>A NP_001300861.1:n.94-6704C>A
NM_004930.4:c.94-6704C>A NP_004921.1:n.94-6704C>A
ENST00000264202.7:c.94-6704C>A ENSP00000264202.7:n.94-6704C>A
ENST00000264203.7:c.172-6704C>A ENSP00000264203.3:n.172-6704C>A
ENST00000375142.5:c.94-6704C>A ENSP00000364284.1:n.94-6704C>A
ENST00000375142.6:c.94-6704C>A ENSP00000364284.1:n.94-6704C>A
ENST00000375144.5:c.58-6704C>A ENSP00000364286.1:n.58-6704C>A
ENST00000375144.6:c.94-6704C>A ENSP00000364286.2:n.94-6704C>A
ENST00000433834.5:c.181-6704C>A ENSP00000401010.1:n.181-6704C>A
ENST00000459967.6:n.105-6704C>A
ENST00000482808.1:n.144-6704C>A
ENST00000482808.2:n.193-6704C>A
ENST00000489607.5:n.211-6704C>A
ENST00000674228.1:c.78-13677C>A
ENST00000674390.1:n.793-6704C>A
ENST00000674432.1:c.94-6704C>A ENSP00000501528.1:n.94-6704C>A
ENST00000674449.1:c.*4831-6704C>A ENSP00000501388.1:n.*4831-6704C>A
XM_006710938.2:c.175-6704C>A XP_006711001.1:n.175-6704C>A
XM_006710938.4:c.175-6704C>A XP_006711001.1:n.175-6704C>A
XM_011542228.1:c.181-6704C>A XP_011540530.1:n.181-6704C>A
XM_011542228.3:c.181-6704C>A XP_011540530.1:n.181-6704C>A
XM_011542229.1:c.-168-6704C>A XP_011540531.1:n.-168-6704C>A
XM_011542229.3:c.-168-6704C>A XP_011540531.1:n.-168-6704C>A
XM_011542230.1:c.-168-6704C>A XP_011540532.1:n.-168-6704C>A
XM_011542230.3:c.-168-6704C>A XP_011540532.1:n.-168-6704C>A
XM_017002428.2:c.58-6704C>A XP_016857917.1:n.58-6704C>A
XM_017002429.2:c.181-6704C>A XP_016857918.1:n.181-6704C>A
XM_017002430.2:c.181-6704C>A XP_016857919.1:n.181-6704C>A
XM_024450096.1:c.-168-6704C>A XP_024305864.1:n.-168-6704C>A
XM_024450097.1:c.-168-6704C>A XP_024305865.1:n.-168-6704C>A