Canonical Allele Identifier: CA8479575

Gene: NSRP1

Linked Data

• dbSNP Id: rs372990944
• ExAC: 17:28444089 G / T
• gnomAD v2: 17-28444089-G-T
• gnomAD v4: 17-30117071-G-T
• MyVariant Identifiers: chr17:g.28444089G>T (hg19) ; chr17:g.30117071G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30117071G>T , CM000679.2:g.30117071G>T	GRCh38
NC_000017.10:g.28444089G>T , CM000679.1:g.28444089G>T	GRCh37
NC_000017.9:g.25468215G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000247026.10:c.20+208G>T MANE Select	ENSP00000247026.5:n.20+208G>T
ENST00000247026.9:c.20+208G>T	ENSP00000247026.5:n.20+208G>T
ENST00000394826.8:c.20+208G>T	ENSP00000378303.4:n.20+208G>T
ENST00000475652.5:c.20+208G>T	ENSP00000464569.1:n.20+208G>T
ENST00000479218.6:c.20+208G>T	ENSP00000466640.1:n.20+208G>T
ENST00000540900.7:n.321+208G>T
ENST00000577289.6:n.45+208G>T
ENST00000583301.5:n.25+208G>T
ENST00000584154.5:c.20+208G>T	ENSP00000462820.1:n.20+208G>T
ENST00000584317.5:c.20+208G>T	ENSP00000463722.1:n.20+208G>T
ENST00000584423.5:c.20+208G>T	ENSP00000464237.1:n.20+208G>T
ENST00000585881.5:c.-310G>T	ENSP00000465442.1:n.-310G>T
ENST00000612959.4:c.-49+208G>T	ENSP00000477862.1:n.-49+208G>T
NM_001261467.1:c.-49+208G>T	NP_001248396.1:n.-49+208G>T
NM_032141.3:c.20+208G>T	NP_115517.1:n.20+208G>T
XM_011525345.1:c.20+208G>T	XP_011523647.1:n.20+208G>T
XR_934651.1:n.682+321C>A
XM_011525345.2:c.20+208G>T	XP_011523647.1:n.20+208G>T
NM_032141.4:c.20+208G>T MANE Select	NP_115517.1:n.20+208G>T
NM_001261467.2:c.-49+208G>T	NP_001248396.1:n.-49+208G>T