Canonical Allele Identifier: CA348291762

Gene: CKAP2L NT5DC4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112742705C>T , CM000664.2:g.112742705C>T	GRCh38
NC_000002.11:g.113500282C>T , CM000664.1:g.113500282C>T	GRCh37
NC_000002.10:g.113216753C>T	NCBI36
NG_041820.1:g.26973G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152515.5:c.1822+1G>A (CKAP2L) MANE Select	NP_689728.3:n.1822+1G>A
ENST00000302450.11:c.1822+1G>A (CKAP2L) MANE Select	ENSP00000305204.6:n.1822+1G>A
NM_001304361.1:c.1327+1G>A (CKAP2L)	NP_001291290.1:n.1327+1G>A
NM_001304361.2:c.1327+1G>A (CKAP2L)	NP_001291290.1:n.1327+1G>A
NM_001350494.1:c.*255C>T (NT5DC4)	NP_001337423.1:n.*255C>T
NM_001350494.2:c.*255C>T (NT5DC4)	NP_001337423.1:n.*255C>T
NM_152515.4:c.1822+1G>A (CKAP2L)	NP_689728.3:n.1822+1G>A
NR_130712.1:n.1143+1G>A (CKAP2L)
NR_130712.2:n.1075+1G>A (CKAP2L)
ENST00000302450.10:c.1822+1G>A (CKAP2L)	ENSP00000305204.6:n.1822+1G>A
ENST00000327581.4:c.*255C>T (NT5DC4)	ENSP00000330247.4:n.*255C>T
ENST00000435431.5:c.*497+1G>A (CKAP2L)	ENSP00000414834.1:n.*497+1G>A
ENST00000474331.1:n.527G>A (CKAP2L)
XM_011510666.1:c.1327+1G>A (CKAP2L)	XP_011508968.1:n.1327+1G>A
XM_011510666.2:c.1327+1G>A (CKAP2L)	XP_011508968.1:n.1327+1G>A
XM_011512264.1:c.*255C>T (NT5DC4)	XP_011510566.1:n.*255C>T
XM_017005475.1:c.*255C>T (NT5DC4)	XP_016860964.1:n.*255C>T
XM_024452802.1:c.*255C>T (NT5DC4)	XP_024308570.1:n.*255C>T
XR_002959271.1:n.1808C>T (NT5DC4)
XR_002959277.1:n.1529C>T (NT5DC4)