Canonical Allele Identifier: CA4169516

Gene: CRPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.16308585A>C , CM000669.2:g.16308585A>C	GRCh38
NC_000007.13:g.16348210A>C , CM000669.1:g.16348210A>C	GRCh37
NC_000007.12:g.16314735A>C	NCBI36
NG_032690.1:g.117738T>G
NG_032690.2:g.117738T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001101426.4:c.727T>G MANE Select	NP_001094896.1:p.Leu243Val
ENST00000407010.7:c.727T>G MANE Select	ENSP00000385478.2:p.Leu243Val
NM_001101417.3:c.577T>G	NP_001094887.1:p.Leu193Val
NM_001101417.4:c.577T>G	NP_001094887.1:p.Leu193Val
NM_001101426.3:c.727T>G	NP_001094896.1:p.Leu243Val
NM_001368197.1:c.685-7119T>G	NP_001355126.1:n.685-7119T>G
NR_160656.1:n.901-30359T>G
ENST00000399310.3:c.577T>G	ENSP00000382249.3:p.Leu193Val
ENST00000407010.6:c.727T>G	ENSP00000385478.2:p.Leu243Val
ENST00000674759.1:c.424T>G	ENSP00000502749.1:p.Leu142Val
ENST00000675257.1:c.382-7119T>G	ENSP00000501664.1:n.382-7119T>G
ENST00000676325.1:c.424T>G	ENSP00000502074.1:p.Leu142Val
XM_006715770.2:c.478T>G	XP_006715833.1:p.Leu160Val
XM_006715770.3:c.478T>G	XP_006715833.1:p.Leu160Val
XM_011515497.1:c.727T>G	XP_011513799.1:p.Leu243Val
XM_011515498.1:c.727T>G	XP_011513800.1:p.Leu243Val
XM_011515499.1:c.727T>G	XP_011513801.1:p.Leu243Val
XM_011515499.2:c.727T>G	XP_011513801.1:p.Leu243Val
XM_011515500.1:c.685-7119T>G	XP_011513802.1:n.685-7119T>G
XM_011515500.2:c.685-7119T>G	XP_011513802.1:n.685-7119T>G
XM_011515501.1:c.727T>G	XP_011513803.1:p.Leu243Val
XM_011515501.2:c.727T>G	XP_011513803.1:p.Leu243Val
XM_011515502.1:c.424T>G	XP_011513804.1:p.Leu142Val
XM_011515503.1:c.424T>G	XP_011513805.1:p.Leu142Val
XM_011515504.1:c.424T>G	XP_011513806.1:p.Leu142Val
XM_011515505.1:c.424T>G	XP_011513807.1:p.Leu142Val
XM_011515506.1:c.424T>G	XP_011513808.1:p.Leu142Val
XM_011515507.1:c.424T>G	XP_011513809.1:p.Leu142Val
XM_011515508.1:c.424T>G	XP_011513810.1:p.Leu142Val
XM_011515508.2:c.424T>G	XP_011513810.1:p.Leu142Val
XM_011515509.1:c.424T>G	XP_011513811.1:p.Leu142Val
XM_011515509.2:c.424T>G	XP_011513811.1:p.Leu142Val
XM_011515511.1:c.685-30359T>G	XP_011513813.1:n.685-30359T>G
XM_017012575.1:c.727T>G	XP_016868064.1:p.Leu243Val
XM_017012576.1:c.727T>G	XP_016868065.1:p.Leu243Val
XM_017012577.1:c.91T>G	XP_016868066.1:p.Leu31Val
XM_017012578.1:c.91T>G	XP_016868067.1:p.Leu31Val
XM_024446909.1:c.424T>G	XP_024302677.1:p.Leu142Val
XM_024446910.1:c.424T>G	XP_024302678.1:p.Leu142Val
XM_024446911.1:c.382-7119T>G	XP_024302679.1:n.382-7119T>G
XM_024446912.1:c.478T>G	XP_024302680.1:p.Leu160Val
XR_001744864.1:n.878T>G
XR_001744865.1:n.886T>G
XR_001744866.1:n.968T>G
XR_001744867.1:n.972T>G
XR_001744868.1:n.844-30359T>G