Canonical Allele Identifier: CA672756
Community Standard Title: NM_005529.7(HSPG2):c.3154C>T (p.Pro1052Ser)
Gene: HSPG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21875892G>A , CM000663.2:g.21875892G>A GRCh38
NC_000001.10:g.22202385G>A , CM000663.1:g.22202385G>A GRCh37
NC_000001.9:g.22074972G>A NCBI36
NG_016740.1:g.66366C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005529.7:c.3154C>T MANE Select NP_005520.4:p.Pro1052Ser
ENST00000374695.8:c.3154C>T MANE Select ENSP00000363827.3:p.Pro1052Ser
NM_001291860.1:c.3157C>T NP_001278789.1:p.Pro1053Ser
NM_001291860.2:c.3157C>T NP_001278789.1:p.Pro1053Ser
NM_005529.6:c.3154C>T NP_005520.4:p.Pro1052Ser
ENST00000374695.7:c.3154C>T ENSP00000363827.3:p.Pro1052Ser
XM_006710594.2:c.3205C>T XP_006710657.1:p.Pro1069Ser
XM_006710595.2:c.3157C>T XP_006710658.1:p.Pro1053Ser
XM_006710596.2:c.3208C>T XP_006710659.1:p.Pro1070Ser
XM_006710597.2:c.3154C>T XP_006710660.1:p.Pro1052Ser
XM_011541317.1:c.3208C>T XP_011539619.1:p.Pro1070Ser
XM_011541318.1:c.3208C>T XP_011539620.1:p.Pro1070Ser
XM_011541318.2:c.3208C>T XP_011539620.1:p.Pro1070Ser
XM_011541319.1:c.3208C>T XP_011539621.1:p.Pro1070Ser
XM_011541320.1:c.3208C>T XP_011539622.1:p.Pro1070Ser
XM_011541321.1:c.3208C>T XP_011539623.1:p.Pro1070Ser
XM_011541322.1:c.3208C>T XP_011539624.1:p.Pro1070Ser
XM_017001120.1:c.3349C>T XP_016856609.1:p.Pro1117Ser
XM_017001121.1:c.3298C>T XP_016856610.1:p.Pro1100Ser
XM_017001122.1:c.3295C>T XP_016856611.1:p.Pro1099Ser