Canonical Allele Identifier: CA2263913759
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185653G= , CM000679.2:g.50185653G= GRCh38
NC_000017.10:g.48263014G= , CM000679.1:g.48263014G= GRCh37
NC_000017.9:g.45618013G= NCBI36
NG_007400.1:g.20987C= , LRG_1:g.20987C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4249-5C= MANE Select ENSP00000225964.6:n.4249-5C=
ENST00000225964.9:c.4249-5C= ENSP00000225964.5:n.4249-5C=
NM_000088.3:c.4249-5C= , LRG_1t1:c.4249-5C= NP_000079.2:n.4249-5C=
XM_005257058.3:c.3979-5C= XP_005257115.2:n.3979-5C=
XM_005257059.3:c.3331-5C= XP_005257116.2:n.3331-5C=
XM_011524341.1:c.4051-5C= XP_011522643.1:n.4051-5C=
XM_005257058.4:c.3979-5C= XP_005257115.2:n.3979-5C=
XM_005257059.4:c.3331-5C= XP_005257116.2:n.3331-5C=
NM_000088.4:c.4249-5C= MANE Select NP_000079.2:n.4249-5C=