Canonical Allele Identifier: CA400197968

Gene: COL1A1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186847G>A , CM000679.2:g.50186847G>A	GRCh38
NC_000017.10:g.48264208G>A , CM000679.1:g.48264208G>A	GRCh37
NC_000017.9:g.45619207G>A	NCBI36
NG_007400.1:g.19793C>T , LRG_1:g.19793C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3607C>T MANE Select	ENSP00000225964.6:p.Gln1203Ter
ENST00000225964.9:c.3607C>T	ENSP00000225964.5:p.Gln1203Ter
ENST00000510710.3:n.276C>T
NM_000088.3:c.3607C>T , LRG_1t1:c.3607C>T	NP_000079.2:p.Gln1203Ter
XM_005257058.3:c.3337C>T	XP_005257115.2:p.Gln1113Ter
XM_005257059.3:c.2689C>T	XP_005257116.2:p.Gln897Ter
XM_011524341.1:c.3409C>T	XP_011522643.1:p.Gln1137Ter
XM_005257058.4:c.3337C>T	XP_005257115.2:p.Gln1113Ter
XM_005257059.4:c.2689C>T	XP_005257116.2:p.Gln897Ter
NM_000088.4:c.3607C>T MANE Select	NP_000079.2:p.Gln1203Ter