Canonical Allele Identifier: CA521831681

Gene: CAPZB

Linked Data

• dbSNP Id: rs1367153087
• gnomAD v2: 1-19765452-G-A
• gnomAD v3: 1-19438958-G-A
• gnomAD v4: 1-19438958-G-A
• MyVariant Identifiers: chr1:g.19765452G>A (hg19) ; chr1:g.19438958G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19438958G>A , CM000663.2:g.19438958G>A	GRCh38
NC_000001.10:g.19765452G>A , CM000663.1:g.19765452G>A	GRCh37
NC_000001.9:g.19638039G>A	NCBI36
NG_029551.1:g.51615C>T
NG_029551.2:g.51615C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375142.6:c.4-19208C>T	ENSP00000364284.1:n.4-19208C>T
ENST00000264202.8:c.4-19208C>T MANE Select	ENSP00000264202.7:n.4-19208C>T
ENST00000375144.6:c.4-19208C>T	ENSP00000364286.2:n.4-19208C>T
ENST00000482808.2:n.103-19208C>T
ENST00000674390.1:n.703-19208C>T
ENST00000674432.1:c.4-19208C>T	ENSP00000501528.1:n.4-19208C>T
ENST00000674449.1:c.4-19208C>T	ENSP00000501388.1:n.4-19208C>T
ENST00000264202.7:c.4-19208C>T	ENSP00000264202.7:n.4-19208C>T
ENST00000264203.7:c.81+9876C>T	ENSP00000264203.3:n.81+9876C>T
ENST00000375142.5:c.4-19208C>T	ENSP00000364284.1:n.4-19208C>T
ENST00000433834.5:c.91-19208C>T	ENSP00000401010.1:n.91-19208C>T
ENST00000459967.6:n.104+46478C>T
ENST00000482808.1:n.54-19208C>T
NM_001206540.2:c.4-19208C>T	NP_001193469.1:n.4-19208C>T
NM_001206541.2:c.81+9876C>T	NP_001193470.1:n.81+9876C>T
NM_001282162.1:c.91-19208C>T	NP_001269091.1:n.91-19208C>T
NM_001313932.1:c.4-19208C>T	NP_001300861.1:n.4-19208C>T
NM_004930.4:c.4-19208C>T	NP_004921.1:n.4-19208C>T
XM_006710938.2:c.84+13175C>T	XP_006711001.1:n.84+13175C>T
XM_011542228.1:c.91-19208C>T	XP_011540530.1:n.91-19208C>T
XR_947021.1:n.883G>A
XM_006710938.4:c.84+13175C>T	XP_006711001.1:n.84+13175C>T
XM_011542228.3:c.91-19208C>T	XP_011540530.1:n.91-19208C>T
XM_017002428.2:c.-33-19208C>T	XP_016857917.1:n.-33-19208C>T
XM_017002429.2:c.91-19208C>T	XP_016857918.1:n.91-19208C>T
XM_017002430.2:c.91-19208C>T	XP_016857919.1:n.91-19208C>T
NM_004930.5:c.4-19208C>T MANE Select	NP_004921.1:n.4-19208C>T
NM_001206540.3:c.4-19208C>T	NP_001193469.1:n.4-19208C>T
NM_001206541.3:c.81+9876C>T	NP_001193470.1:n.81+9876C>T
NM_001282162.2:c.91-19208C>T	NP_001269091.1:n.91-19208C>T
NM_001313932.2:c.4-19208C>T	NP_001300861.1:n.4-19208C>T