Canonical Allele Identifier: CA2263915164
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50188495G= , CM000679.2:g.50188495G= GRCh38
NC_000017.10:g.48265856G= , CM000679.1:g.48265856G= GRCh37
NC_000017.9:g.45620855G= NCBI36
NG_007400.1:g.18145C= , LRG_1:g.18145C=

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.3207+35C= MANE Select ENSP00000225964.6:n.3207+35C=
ENST00000225964.9:c.3207+35C= ENSP00000225964.5:n.3207+35C=
ENST00000486572.1:n.60C=
ENST00000511732.1:n.186C=
NM_000088.3:c.3207+35C= , LRG_1t1:c.3207+35C= NP_000079.2:n.3207+35C=
XM_005257058.3:c.2937+35C= XP_005257115.2:n.2937+35C=
XM_005257059.3:c.2289+35C= XP_005257116.2:n.2289+35C=
XM_011524341.1:c.3009+35C= XP_011522643.1:n.3009+35C=
XM_005257058.4:c.2937+35C= XP_005257115.2:n.2937+35C=
XM_005257059.4:c.2289+35C= XP_005257116.2:n.2289+35C=
NM_000088.4:c.3207+35C= MANE Select NP_000079.2:n.3207+35C=