Canonical Allele Identifier: CA367001898
Community Standard Title: NM_001101426.4(CRPPA):c.676T>C (p.Tyr226His)
Gene: CRPPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.16376100A>G , CM000669.2:g.16376100A>G GRCh38
NC_000007.13:g.16415725A>G , CM000669.1:g.16415725A>G GRCh37
NC_000007.12:g.16382250A>G NCBI36
NG_032690.1:g.50223T>C
NG_032690.2:g.50223T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001101426.4:c.676T>C MANE Select NP_001094896.1:p.Tyr226His
ENST00000407010.7:c.676T>C MANE Select ENSP00000385478.2:p.Tyr226His
NM_001101417.3:c.534+29961T>C NP_001094887.1:n.534+29961T>C
NM_001101417.4:c.534+29961T>C NP_001094887.1:n.534+29961T>C
NM_001101426.3:c.676T>C NP_001094896.1:p.Tyr226His
NM_001368197.1:c.676T>C NP_001355126.1:p.Tyr226His
NR_160656.1:n.892T>C
ENST00000399310.3:c.534+29961T>C ENSP00000382249.3:n.534+29961T>C
ENST00000407010.6:c.676T>C ENSP00000385478.2:p.Tyr226His
ENST00000674759.1:c.373T>C ENSP00000502749.1:p.Tyr125His
ENST00000675257.1:c.373T>C ENSP00000501664.1:p.Tyr125His
ENST00000676325.1:c.373T>C ENSP00000502074.1:p.Tyr125His
XM_006715770.2:c.427T>C XP_006715833.1:p.Tyr143His
XM_006715770.3:c.427T>C XP_006715833.1:p.Tyr143His
XM_011515497.1:c.676T>C XP_011513799.1:p.Tyr226His
XM_011515498.1:c.676T>C XP_011513800.1:p.Tyr226His
XM_011515499.1:c.676T>C XP_011513801.1:p.Tyr226His
XM_011515499.2:c.676T>C XP_011513801.1:p.Tyr226His
XM_011515500.1:c.676T>C XP_011513802.1:p.Tyr226His
XM_011515500.2:c.676T>C XP_011513802.1:p.Tyr226His
XM_011515501.1:c.676T>C XP_011513803.1:p.Tyr226His
XM_011515501.2:c.676T>C XP_011513803.1:p.Tyr226His
XM_011515502.1:c.373T>C XP_011513804.1:p.Tyr125His
XM_011515503.1:c.373T>C XP_011513805.1:p.Tyr125His
XM_011515504.1:c.373T>C XP_011513806.1:p.Tyr125His
XM_011515505.1:c.373T>C XP_011513807.1:p.Tyr125His
XM_011515506.1:c.373T>C XP_011513808.1:p.Tyr125His
XM_011515507.1:c.373T>C XP_011513809.1:p.Tyr125His
XM_011515508.1:c.373T>C XP_011513810.1:p.Tyr125His
XM_011515508.2:c.373T>C XP_011513810.1:p.Tyr125His
XM_011515509.1:c.373T>C XP_011513811.1:p.Tyr125His
XM_011515509.2:c.373T>C XP_011513811.1:p.Tyr125His
XM_011515510.1:c.676T>C XP_011513812.1:p.Tyr226His
XM_011515511.1:c.676T>C XP_011513813.1:p.Tyr226His
XM_017012575.1:c.676T>C XP_016868064.1:p.Tyr226His
XM_017012576.1:c.676T>C XP_016868065.1:p.Tyr226His
XM_017012577.1:c.40T>C XP_016868066.1:p.Tyr14His
XM_024446909.1:c.373T>C XP_024302677.1:p.Tyr125His
XM_024446910.1:c.373T>C XP_024302678.1:p.Tyr125His
XM_024446911.1:c.373T>C XP_024302679.1:p.Tyr125His
XM_024446912.1:c.427T>C XP_024302680.1:p.Tyr143His
XR_001744864.1:n.827T>C
XR_001744865.1:n.835T>C
XR_001744866.1:n.855T>C
XR_001744867.1:n.859T>C
XR_001744868.1:n.835T>C