Canonical Allele Identifier: CA8644809

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190327A>G , CM000679.2:g.50190327A>G	GRCh38
NC_000017.10:g.48267688A>G , CM000679.1:g.48267688A>G	GRCh37
NC_000017.9:g.45622687A>G	NCBI36
NG_007400.1:g.16313T>C , LRG_1:g.16313T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2451T>C MANE Select	NP_000079.2:p.Pro817=
ENST00000225964.10:c.2451T>C MANE Select	ENSP00000225964.6:p.Pro817=
NM_000088.3:c.2451T>C , LRG_1t1:c.2451T>C	NP_000079.2:p.Pro817=
ENST00000225964.9:c.2451T>C	ENSP00000225964.5:p.Pro817=
ENST00000494334.1:n.378T>C
XM_005257058.3:c.2451T>C	XP_005257115.2:p.Pro817=
XM_005257058.4:c.2451T>C	XP_005257115.2:p.Pro817=
XM_005257059.3:c.1533T>C	XP_005257116.2:p.Pro511=
XM_005257059.4:c.1533T>C	XP_005257116.2:p.Pro511=
XM_011524341.1:c.2253T>C	XP_011522643.1:p.Pro751=