Canonical Allele Identifier: CA2638710161
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50194063-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194063G>T , CM000679.2:g.50194063G>T GRCh38
NC_000017.10:g.48271424G>T , CM000679.1:g.48271424G>T GRCh37
NC_000017.9:g.45626423G>T NCBI36
NG_007400.1:g.12577C>A , LRG_1:g.12577C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.1669-22C>A MANE Select ENSP00000225964.6:n.1669-22C>A
ENST00000225964.9:c.1669-22C>A ENSP00000225964.5:n.1669-22C>A
ENST00000463440.1:n.59-22C>A
ENST00000471344.1:n.679C>A
NM_000088.3:c.1669-22C>A , LRG_1t1:c.1669-22C>A NP_000079.2:n.1669-22C>A
XM_005257058.3:c.1669-22C>A XP_005257115.2:n.1669-22C>A
XM_005257059.3:c.958-1370C>A XP_005257116.2:n.958-1370C>A
XM_011524341.1:c.1471-22C>A XP_011522643.1:n.1471-22C>A
XM_005257058.4:c.1669-22C>A XP_005257115.2:n.1669-22C>A
XM_005257059.4:c.958-1370C>A XP_005257116.2:n.958-1370C>A
NM_000088.4:c.1669-22C>A MANE Select NP_000079.2:n.1669-22C>A
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