Canonical Allele Identifier: CA154771042
Gene: CRPPA HGNC NCBI

Linked Data

dbSNP Id: rs79210757
gnomAD v2: 7-16499960-C-T
gnomAD v3: 7-16460335-C-T
gnomAD v4: 7-16460335-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.16460335C>T , CM000669.2:g.16460335C>T GRCh38
NC_000007.13:g.16499960C>T , CM000669.1:g.16499960C>T GRCh37
NC_000007.12:g.16466485C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000674759.1:c.-47+36045G>A ENSP00000502749.1:n.-47+36045G>A
ENST00000675257.1:c.-47+36045G>A ENSP00000501664.1:n.-47+36045G>A
XM_011515502.1:c.-47+36045G>A XP_011513804.1:n.-47+36045G>A
XM_011515503.1:c.-47+36045G>A XP_011513805.1:n.-47+36045G>A
XM_011515504.1:c.-47+36045G>A XP_011513806.1:n.-47+36045G>A
XM_011515505.1:c.-47+36045G>A XP_011513807.1:n.-47+36045G>A
XM_011515506.1:c.-47+36045G>A XP_011513808.1:n.-47+36045G>A
XM_011515507.1:c.-47+36045G>A XP_011513809.1:n.-47+36045G>A
XR_927059.1:n.136C>T
XM_024446909.1:c.-47+36045G>A XP_024302677.1:n.-47+36045G>A
XM_024446910.1:c.-47+36045G>A XP_024302678.1:n.-47+36045G>A
XM_024446911.1:c.-47+36045G>A XP_024302679.1:n.-47+36045G>A