Canonical Allele Identifier: CA10469448
Community Standard Title: NM_014467.3(SRPX2):c.221C>T (p.Pro74Leu)
Gene: SRPX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100662233C>T , CM000685.2:g.100662233C>T GRCh38
NC_000023.10:g.99917230C>T , CM000685.1:g.99917230C>T GRCh37
NC_000023.9:g.99803886C>T NCBI36
NG_021337.1:g.23068C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014467.3:c.221C>T MANE Select NP_055282.1:p.Pro74Leu
ENST00000373004.5:c.221C>T MANE Select ENSP00000362095.3:p.Pro74Leu
NM_014467.2:c.221C>T NP_055282.1:p.Pro74Leu
ENST00000373004.3:c.221C>T ENSP00000362095.3:p.Pro74Leu
ENST00000638319.1:n.209C>T
ENST00000638458.1:c.245C>T ENSP00000492168.1:p.Pro82Leu
ENST00000638920.1:n.224C>T
ENST00000640020.1:n.526C>T
ENST00000640889.1:c.221C>T ENSP00000492571.1:p.Pro74Leu
ENST00000677630.1:n.155C>T
ENST00000679590.1:n.254C>T
XM_005262121.2:c.221C>T XP_005262178.1:p.Pro74Leu