Canonical Allele Identifier: CA127142
Community Standard Title: NM_000088.4(COL1A1):c.104-441G=
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50200388C= , CM000679.2:g.50200388C= GRCh38
NC_000017.10:g.48277749C= , CM000679.1:g.48277749C= GRCh37
NC_000017.9:g.45632748C= NCBI36
NG_007400.1:g.6252G= , LRG_1:g.6252G=

Transcript Alleles

HGVS Amino-acid Change
NM_000088.4:c.104-441G= MANE Select NP_000079.2:n.104-441G=
ENST00000225964.10:c.104-441G= MANE Select ENSP00000225964.6:n.104-441G=
NM_000088.3:c.104-441G= , LRG_1t1:c.104-441G= NP_000079.2:n.104-441G=
ENST00000225964.9:c.104-441G= ENSP00000225964.5:n.104-441G=
ENST00000474644.1:n.223-441G=
XM_005257058.3:c.104-441G= XP_005257115.2:n.104-441G=
XM_005257058.4:c.104-441G= XP_005257115.2:n.104-441G=
XM_005257059.3:c.104-441G= XP_005257116.2:n.104-441G=
XM_005257059.4:c.104-441G= XP_005257116.2:n.104-441G=
XM_011524341.1:c.104-441G= XP_011522643.1:n.104-441G=