Canonical Allele Identifier: CA400191815

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263228C>G (hg19) ; chr17:g.50185867C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185867C>G , CM000679.2:g.50185867C>G	GRCh38
NC_000017.10:g.48263228C>G , CM000679.1:g.48263228C>G	GRCh37
NC_000017.9:g.45618227C>G	NCBI36
NG_007400.1:g.20773G>C , LRG_1:g.20773G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4159G>C MANE Select	ENSP00000225964.6:p.Ala1387Pro
ENST00000225964.9:c.4159G>C	ENSP00000225964.5:p.Ala1387Pro
ENST00000510710.3:n.1124G>C
NM_000088.3:c.4159G>C , LRG_1t1:c.4159G>C	NP_000079.2:p.Ala1387Pro
XM_005257058.3:c.3889G>C	XP_005257115.2:p.Ala1297Pro
XM_005257059.3:c.3241G>C	XP_005257116.2:p.Ala1081Pro
XM_011524341.1:c.3961G>C	XP_011522643.1:p.Ala1321Pro
XM_005257058.4:c.3889G>C	XP_005257115.2:p.Ala1297Pro
XM_005257059.4:c.3241G>C	XP_005257116.2:p.Ala1081Pro
NM_000088.4:c.4159G>C MANE Select	NP_000079.2:p.Ala1387Pro