Canonical Allele Identifier: CA2263920286
Community Standard Title: NM_000088.4(COL1A1):c.517G= (p.Gly173=)
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50198459C= , CM000679.2:g.50198459C= GRCh38
NC_000017.10:g.48275820C= , CM000679.1:g.48275820C= GRCh37
NC_000017.9:g.45630819C= NCBI36
NG_007400.1:g.8181G= , LRG_1:g.8181G=

Transcript Alleles

HGVS Amino-acid Change
NM_000088.4:c.517G= MANE Select NP_000079.2:p.Gly173=
ENST00000225964.10:c.517G= MANE Select ENSP00000225964.6:p.Gly173=
NM_000088.3:c.517G= , LRG_1t1:c.517G= NP_000079.2:p.Gly173=
ENST00000225964.9:c.517G= ENSP00000225964.5:p.Gly173=
ENST00000495677.1:n.244G=
XM_005257058.3:c.517G= XP_005257115.2:p.Gly173=
XM_005257058.4:c.517G= XP_005257115.2:p.Gly173=
XM_005257059.3:c.517G= XP_005257116.2:p.Gly173=
XM_005257059.4:c.517G= XP_005257116.2:p.Gly173=
XM_011524341.1:c.517G= XP_011522643.1:p.Gly173=