Canonical Allele Identifier: CA400200231

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188134C>G , CM000679.2:g.50188134C>G	GRCh38
NG_007400.1:g.18506G>C , LRG_1:g.18506G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3223G>C MANE Select	NP_000079.2:p.Ala1075Pro
ENST00000225964.10:c.3223G>C MANE Select	ENSP00000225964.6:p.Ala1075Pro
NM_000088.3:c.3223G>C , LRG_1t1:c.3223G>C	NP_000079.2:p.Ala1075Pro
ENST00000225964.9:c.3223G>C	ENSP00000225964.5:p.Ala1075Pro
ENST00000486572.1:n.421G>C
ENST00000511732.1:n.547G>C
XM_005257058.3:c.2953G>C	XP_005257115.2:p.Ala985Pro
XM_005257058.4:c.2953G>C	XP_005257115.2:p.Ala985Pro
XM_005257059.3:c.2305G>C	XP_005257116.2:p.Ala769Pro
XM_005257059.4:c.2305G>C	XP_005257116.2:p.Ala769Pro
XM_011524341.1:c.3025G>C	XP_011522643.1:p.Ala1009Pro