Canonical Allele Identifier: CA2263916157
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50190334C= , CM000679.2:g.50190334C= GRCh38
NC_000017.10:g.48267695C= , CM000679.1:g.48267695C= GRCh37
NC_000017.9:g.45622694C= NCBI36
NG_007400.1:g.16306G= , LRG_1:g.16306G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.2444G= MANE Select ENSP00000225964.6:p.Gly815=
ENST00000225964.9:c.2444G= ENSP00000225964.5:p.Gly815=
ENST00000494334.1:n.371G=
NM_000088.3:c.2444G= , LRG_1t1:c.2444G= NP_000079.2:p.Gly815=
XM_005257058.3:c.2444G= XP_005257115.2:p.Gly815=
XM_005257059.3:c.1526G= XP_005257116.2:p.Gly509=
XM_011524341.1:c.2246G= XP_011522643.1:p.Gly749=
XM_005257058.4:c.2444G= XP_005257115.2:p.Gly815=
XM_005257059.4:c.1526G= XP_005257116.2:p.Gly509=
NM_000088.4:c.2444G= MANE Select NP_000079.2:p.Gly815=